ClinVar Miner

List of variants reported as likely pathogenic by Yale Center for Mendelian Genomics, Yale University

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 547
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HGVS dbSNP gnomAD frequency
NM_002386.4(MC1R):c.880G>C (p.Asp294His) rs1805009 0.01121
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) rs143044921 0.00430
NM_004252.5(NHERF1):c.673G>A (p.Glu225Lys) rs119486097 0.00351
NM_002461.3(MVD):c.70+5G>A rs200035262 0.00306
NM_003052.5(SLC34A1):c.398C>T (p.Ala133Val) rs148976897 0.00298
NM_001039362.2(ATP6V1C2):c.503T>C (p.Ile168Thr) rs150980575 0.00274
NM_001040694.2(INCENP):c.2415G>C (p.Gln805His) rs61893682 0.00255
NM_002253.4(KDR):c.2312C>T (p.Thr771Met) rs149745504 0.00198
NM_018384.5(GIMAP5):c.611T>C (p.Leu204Pro) rs72650695 0.00189
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_181712.5(KANK4):c.2401T>C (p.Tyr801His) rs145623004 0.00133
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_002470.4(MYH3):c.875C>G (p.Ser292Cys) rs139480342 0.00068
NM_015102.5(NPHP4):c.3983C>T (p.Pro1328Leu) rs199583130 0.00068
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter) rs137852949 0.00066
NM_207361.6(FREM2):c.7535G>A (p.Arg2512His) rs61978626 0.00058
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_181426.2(CCDC39):c.1167+1261A>G rs577069249 0.00051
NM_012144.4(DNAI1):c.48+2dup rs397515363 0.00050
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_000341.4(SLC3A1):c.592del (p.Ala198fs) rs778000327 0.00028
NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter) rs201812542 0.00022
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_004722.4(AP4M1):c.1100G>A (p.Arg367Gln) rs139861201 0.00021
NM_182920.2(ADAMTS9):c.194C>G (p.Thr65Arg) rs192420947 0.00021
NM_006556.4(PMVK):c.329G>A (p.Arg110Gln) rs140728783 0.00020
NM_002386.4(MC1R):c.512C>G (p.Ala171Gly) rs373224783 0.00019
NM_003052.5(SLC34A1):c.1204G>C (p.Gly402Arg) rs376131751 0.00018
NM_001272046.2(VWA2):c.1336C>T (p.Arg446Cys) rs148731211 0.00016
NM_006556.4(PMVK):c.79G>T (p.Glu27Ter) rs373000976 0.00016
NM_005245.4(FAT1):c.5671C>A (p.Pro1891Thr) rs185078412 0.00015
NM_014669.5(NUP93):c.1772G>T (p.Gly591Val) rs145473779 0.00014
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_014669.5(NUP93):c.575A>G (p.Tyr192Cys) rs201924382 0.00013
NM_014967.5(FAN1):c.2774_2775del (p.Leu925fs) rs765970053 0.00013
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro) rs78853309 0.00011
NM_002386.4(MC1R):c.515G>T (p.Ser172Ile) rs376670171 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_003114.5(SPAG1):c.2014C>T (p.Gln672Ter) rs201740530 0.00010
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter) rs267606919 0.00010
NM_032756.4(HPDL):c.859T>C (p.Tyr287His) rs777360560 0.00010
NM_033380.3(COL4A5):c.899C>T (p.Pro300Leu) rs375377003 0.00010
NM_000168.6(GLI3):c.539G>A (p.Arg180Gln) rs140772904 0.00009
NM_000341.4(SLC3A1):c.1799G>A (p.Gly600Glu) rs141944551 0.00009
NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys) rs121918608 0.00009
NM_001079675.5(ETV4):c.1244G>A (p.Arg415His) rs373515634 0.00009
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467 0.00009
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile) rs376478015 0.00009
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser) rs121918232 0.00009
NM_181426.2(CCDC39):c.610-2A>G rs756235547 0.00009
NM_004722.4(AP4M1):c.920G>C (p.Gly307Ala) rs542768500 0.00008
NM_177400.3(NKX6-2):c.541C>G (p.Leu181Val) rs369901030 0.00008
NM_001845.6(COL4A1):c.2641A>G (p.Met881Val) rs775563545 0.00007
NM_207361.6(FREM2):c.3661C>T (p.Pro1221Ser) rs143192660 0.00007
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) rs121908525 0.00006
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_001127898.4(CLCN5):c.925C>T (p.Arg309Cys) rs782056386 0.00006
NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter) rs200693106 0.00006
NM_001364171.2(ODAD1):c.448C>T (p.Arg150Ter) rs752269093 0.00006
NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter) rs200901816 0.00006
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861 0.00006
NM_000486.6(AQP2):c.782C>T (p.Ser261Leu) rs376000406 0.00005
NM_001042492.3(NF1):c.1166A>G (p.His389Arg) rs149739570 0.00005
NM_024753.5(TTC21B):c.2569G>A (p.Ala857Thr) rs190101048 0.00005
NM_025074.7(FRAS1):c.3998T>C (p.Val1333Ala) rs773232259 0.00005
NM_032756.4(HPDL):c.1013T>C (p.Leu338Pro) rs145372387 0.00005
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg) rs121908523 0.00004
NM_001128126.3(AP4S1):c.43C>T (p.Arg15Ter) rs754944359 0.00004
NM_001253852.3(AP4B1):c.1177C>T (p.Arg393Ter) rs374894037 0.00004
NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter) rs529495094 0.00004
NM_001845.6(COL4A1):c.2351C>T (p.Pro784Leu) rs372750171 0.00004
NM_001845.6(COL4A1):c.3997G>A (p.Asp1333Asn) rs141395813 0.00004
NM_003052.5(SLC34A1):c.644+1G>A rs201304511 0.00004
NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter) rs146262009 0.00004
NM_004722.4(AP4M1):c.680G>A (p.Arg227His) rs371712994 0.00004
NM_005245.4(FAT1):c.857A>G (p.Asn286Ser) rs201488687 0.00004
NM_080916.3(DGUOK):c.137A>G (p.Asn46Ser) rs763615602 0.00004
NM_001253852.3(AP4B1):c.304C>T (p.Arg102Ter) rs777248758 0.00003
NM_001369.3(DNAH5):c.3905del (p.Leu1302fs) rs754698253 0.00003
NM_001369.3(DNAH5):c.5710-2A>G rs548521732 0.00003
NM_001379180.1(ESRRB):c.599G>A (p.Arg200His) rs752185665 0.00003
NM_002968.3(SALL1):c.703G>A (p.Ala235Thr) rs761053549 0.00003
NM_003052.5(SLC34A1):c.1724C>T (p.Thr575Ile) rs201331677 0.00003
NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro) rs143649022 0.00003
NM_004722.4(AP4M1):c.916C>T (p.Arg306Ter) rs369459721 0.00003
NM_015891.3(CDC40):c.1505T>G (p.Phe502Cys) rs779945821 0.00003
NM_016166.3(PIAS1):c.317C>T (p.Ser106Leu) rs774456004 0.00003
NM_017752.3(TBC1D8B):c.1030C>T (p.Arg344Ter) rs749688361 0.00003
NM_021628.3(ALOXE3):c.1630C>T (p.Gln544Ter) rs781631629 0.00003
NM_032756.4(HPDL):c.3G>C (p.Met1Ile) rs777607274 0.00003
NM_032756.4(HPDL):c.847C>T (p.Pro283Ser) rs751574835 0.00003
NM_130810.4(DNAAF4):c.988C>T (p.Arg330Trp) rs201173498 0.00003
NM_000687.4(AHCY):c.266C>T (p.Ala89Val) rs755222515 0.00002
NM_001128126.3(AP4S1):c.139-2A>G rs758748011 0.00002
NM_001128126.3(AP4S1):c.295-3C>A rs185246578 0.00002
NM_001253852.3(AP4B1):c.1345A>T (p.Arg449Ter) rs142209254 0.00002
NM_001253852.3(AP4B1):c.617G>A (p.Arg206Gln) rs149705131 0.00002
NM_001277115.2(DNAH11):c.6130C>T (p.Arg2044Ter) rs767595964 0.00002
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter) rs372118787 0.00002
NM_001369.3(DNAH5):c.1432C>T (p.Arg478Ter) rs747900131 0.00002
NM_001845.6(COL4A1):c.1807C>T (p.Pro603Ser) rs747585517 0.00002
NM_001845.6(COL4A1):c.196C>A (p.Gln66Lys) rs751220553 0.00002
NM_001845.6(COL4A1):c.3671C>T (p.Pro1224Leu) rs775810147 0.00002
NM_002292.4(LAMB2):c.395C>T (p.Ala132Val) rs766482429 0.00002
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln) rs386833880 0.00002
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu) rs372855769 0.00002
NM_007347.5(AP4E1):c.869+1G>A rs868844377 0.00002
NM_015156.4(RCOR1):c.446-3C>T rs754404879 0.00002
NM_016059.5(PPIL1):c.280+1G>A rs374639625 0.00002
NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu) rs118203956 0.00002
NM_032130.3(FAM186B):c.506-2A>G rs549662742 0.00002
NM_032856.5(WDR73):c.703C>T (p.Gln235Ter) rs797044992 0.00002
NM_148960.3(CLDN19):c.535G>A (p.Gly179Ser) rs145591298 0.00002
NM_000064.4(C3):c.4534C>T (p.Arg1512Cys) rs1408701335 0.00001
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181 0.00001
NM_000204.5(CFI):c.1A>G (p.Met1Val) rs770655669 0.00001
NM_000338.3(SLC12A1):c.769G>A (p.Gly257Ser) rs896545456 0.00001
NM_001039111.3(TRIM71):c.2450G>A (p.Arg817Gln) rs1045177462 0.00001
NM_001080508.3(TBX18):c.1802A>G (p.Gln601Arg) rs748043014 0.00001
NM_001099922.3(ALG13):c.2272G>T (p.Val758Phe) rs1157517282 0.00001
NM_001113378.2(FANCI):c.217A>T (p.Ile73Phe) rs138808921 0.00001
NM_001128126.3(AP4S1):c.17T>C (p.Leu6Pro) rs1335804396 0.00001
NM_001128126.3(AP4S1):c.294+1G>T rs886041127 0.00001
NM_001253852.3(AP4B1):c.1115-2A>G rs1210851910 0.00001
NM_001253852.3(AP4B1):c.114-2A>G rs879255396 0.00001
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter) rs776976178 0.00001
NM_001253852.3(AP4B1):c.409A>G (p.Arg137Gly) rs1041267828 0.00001
NM_001271049.2(CFAP221):c.2318+1G>A rs759274091 0.00001
NM_001291303.3(FAT4):c.9279A>C (p.Gln3093His) rs769424345 0.00001
NM_001291303.3(FAT4):c.9313A>G (p.Ser3105Gly) rs764097811 0.00001
NM_001369.3(DNAH5):c.12107G>A (p.Trp4036Ter) rs760104757 0.00001
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter) rs771663107 0.00001
NM_001369.3(DNAH5):c.5983C>T (p.Arg1995Ter) rs773711154 0.00001
NM_001369.3(DNAH5):c.6335_6336insT (p.Gln2112fs) rs779506456 0.00001
NM_001369.3(DNAH5):c.7096C>T (p.Arg2366Trp) rs868151020 0.00001
NM_001369.3(DNAH5):c.7915C>T (p.Arg2639Ter) rs375053470 0.00001
NM_001369.3(DNAH5):c.8010+3A>G rs748171209 0.00001
NM_001369.3(DNAH5):c.8147T>C (p.Ile2716Thr) rs746501395 0.00001
NM_001369.3(DNAH5):c.832del (p.Ala278fs) rs727502977 0.00001
NM_001369.3(DNAH5):c.8383C>T (p.Arg2795Ter) rs560398270 0.00001
NM_001369.3(DNAH5):c.9637del (p.Ala3213fs) rs1305797678 0.00001
NM_001378189.1(CFAP57):c.1762C>T (p.Arg588Ter) rs369556067 0.00001
NM_001453.3(FOXC1):c.1090C>T (p.Pro364Ser) rs867806300 0.00001
NM_001453.3(FOXC1):c.176G>T (p.Gly59Val) rs1762519001 0.00001
NM_001845.6(COL4A1):c.3704A>G (p.Lys1235Arg) rs781655700 0.00001
NM_001845.6(COL4A1):c.4717G>A (p.Gly1573Arg) rs759600848 0.00001
NM_002292.4(LAMB2):c.1731+1G>A rs755787013 0.00001
NM_002292.4(LAMB2):c.4573C>T (p.Gln1525Ter) rs376983109 0.00001
NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp) rs121912488 0.00001
NM_002968.3(SALL1):c.1666G>A (p.Gly556Ser) rs776856200 0.00001
NM_003052.5(SLC34A1):c.536T>C (p.Leu179Pro) rs142772770 0.00001
NM_003285.3(TNR):c.1189G>A (p.Ala397Thr) rs750577544 0.00001
NM_003285.3(TNR):c.3574C>T (p.Arg1192Trp) rs1571308125 0.00001
NM_004525.3(LRP2):c.2639+1G>A rs746752313 0.00001
NM_004525.3(LRP2):c.9575G>A (p.Arg3192Gln) rs753667280 0.00001
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863 0.00001
NM_004722.4(AP4M1):c.1117C>T (p.Gln373Ter) rs1562912305 0.00001
NM_004722.4(AP4M1):c.1137+1G>T rs770705832 0.00001
NM_004722.4(AP4M1):c.577G>A (p.Glu193Lys) rs387906838 0.00001
NM_004722.4(AP4M1):c.802C>T (p.Arg268Ter) rs780030221 0.00001
NM_004722.4(AP4M1):c.955T>C (p.Cys319Arg) rs754498075 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_005245.4(FAT1):c.3008C>T (p.Ala1003Val) rs369363545 0.00001
NM_005245.4(FAT1):c.4517G>A (p.Arg1506His) rs570583897 0.00001
NM_005540.3(INPP5B):c.152C>T (p.Ala51Val) rs773387490 0.00001
NM_012203.2(GRHPR):c.404+5G>A rs757796926 0.00001
NM_014140.4(SMARCAL1):c.1756C>T (p.Arg586Trp) rs119473038 0.00001
NM_014140.4(SMARCAL1):c.2290C>T (p.Arg764Trp) rs1480919035 0.00001
NM_014669.5(NUP93):c.2017C>T (p.Arg673Trp) rs1166462755 0.00001
NM_016059.5(PPIL1):c.133C>T (p.Arg45Ter) rs1774516234 0.00001
NM_016059.5(PPIL1):c.233A>G (p.Tyr78Cys) rs1774173253 0.00001
NM_016059.5(PPIL1):c.379A>G (p.Thr127Ala) rs553128312 0.00001
NM_016059.5(PPIL1):c.392G>A (p.Arg131Gln) rs765668519 0.00001
NM_017950.4(CCDC40):c.1093G>T (p.Glu365Ter) rs1434356376 0.00001
NM_018384.5(GIMAP5):c.140T>C (p.Ile47Thr) rs1797607693 0.00001
NM_018384.5(GIMAP5):c.326C>T (p.Pro109Leu) rs927435790 0.00001
NM_025074.7(FRAS1):c.8131T>C (p.Tyr2711His) rs541053205 0.00001
NM_032120.4(RBM48):c.835A>G (p.Thr279Ala) rs372607453 0.00001
NM_032756.4(HPDL):c.149G>A (p.Gly50Asp) rs1391712320 0.00001
NM_032756.4(HPDL):c.503G>A (p.Cys168Tyr) rs1186696459 0.00001
NM_032756.4(HPDL):c.788C>T (p.Thr263Met) rs116004018 0.00001
NM_032756.4(HPDL):c.797T>C (p.Ile266Thr) rs769373772 0.00001
NM_032756.4(HPDL):c.835C>T (p.Gln279Ter) rs774014588 0.00001
NM_138691.3(TMC1):c.1334G>A (p.Arg445His) rs760532554 0.00001
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) rs781368899 0.00001
NM_177400.3(NKX6-2):c.301C>A (p.Arg101Ser) rs1207105923 0.00001
NM_181426.2(CCDC39):c.1356C>A (p.Tyr452Ter) rs375839864 0.00001
NM_181426.2(CCDC39):c.1665+1G>A rs753580394 0.00001
NM_212482.4(FN1):c.7379T>C (p.Ile2460Thr) rs2053446114 0.00001
NM_213607.3(CCDC103):c.144-1G>A rs747091524 0.00001
NC_000005.9:g.154735732_155604899dup
NC_000005.9:g.155599390_155755985dup
NM_000030.3(AGXT):c.1079G>C (p.Arg360Pro) rs180177161
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.481G>A (p.Gly161Ser) rs180177227
NM_000030.3(AGXT):c.863G>A (p.Trp288Ter) rs2106431706
NM_000069.3(CACNA1S):c.1678G>T (p.Ala560Ser) rs763794604
NM_000089.4(COL1A2):c.2027G>A (p.Gly676Asp) rs66883877
NM_000092.5(COL4A4):c.3704del (p.Pro1235fs) rs754706338
NM_000169.3(GLA):c.504A>C (p.Lys168Asn) rs2147477422
NM_000179.3(MSH6):c.3822dup (p.Cys1275fs) rs1553333346
NM_000214.3(JAG1):c.1313G>A (p.Cys438Tyr) rs1600184363
NM_000214.3(JAG1):c.2092_2093insG (p.Lys698fs) rs1600181733
NM_000214.3(JAG1):c.2638T>C (p.Cys880Arg) rs756911979
NM_000214.3(JAG1):c.2698C>T (p.Arg900Ter) rs1555827789
NM_000214.3(JAG1):c.2956_2957dup (p.Leu986fs) rs2122595849
NM_000214.3(JAG1):c.439+1G>A rs863223648
NM_000264.5(PTCH1):c.1503+3A>G rs878853846
NM_000264.5(PTCH1):c.1991_1997del (p.Leu664fs) rs1588574984
NM_000264.5(PTCH1):c.456_457del (p.Met152fs) rs1588622713
NM_000276.4(OCRL):c.187_199+449del rs1556338810
NM_000278.5(PAX2):c.254G>T (p.Gly85Val) rs2133836347
NM_000278.5(PAX2):c.275C>T (p.Thr92Met) rs1845411121
NM_000278.5(PAX2):c.76dup (p.Val26fs) rs75462234
NM_000290.4(PGAM2):c.637G>A (p.Gly213Arg) rs750422335
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000338.3(SLC12A1):c.1163del (p.Phe388fs) rs779588655
NM_000338.3(SLC12A1):c.1424G>A (p.Cys475Tyr) rs1555466999
NM_000421.5(KRT10):c.466C>T (p.Arg156Cys) rs58852768
NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro)
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
NM_000458.4(HNF1B):c.857T>C (p.Leu286Pro) rs2147545592
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro) rs397517920
NM_000503.6(EYA1):c.966+1G>C rs2128951565
NM_000540.3(RYR1):c.179A>G (p.Asp60Gly) rs1555762532
NM_001012759.3(CTU2):c.1399C>T (p.Arg467Cys) rs139862860
NM_001034853.2(RPGR):c.1059+1del rs2147238385
NM_001039111.3(TRIM71):c.1886G>A (p.Arg629His) rs1575362239
NM_001040142.2(SCN2A):c.4913G>C (p.Arg1638Pro) rs1702006258
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001042492.3(NF1):c.1260+5G>A rs1060500253
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.4577+1G>A rs1279529138
NM_001042492.3(NF1):c.5227G>C (p.Ala1743Pro) rs878853900
NM_001077418.3(TMEM231):c.119T>G (p.Leu40Arg) rs1567441193
NM_001080508.3(TBX18):c.1010del (p.Gly337fs) rs869320679
NM_001099922.3(ALG13):c.241G>A (p.Ala81Thr) rs1064796372
NM_001099922.3(ALG13):c.2458-15_2486del rs770762084
NM_001099922.3(ALG13):c.2915G>T (p.Gly972Val) rs2148407095
NM_001099922.3(ALG13):c.3013C>T (p.Pro1005Ser) rs1945385727
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001101.5(ACTB):c.331A>G (p.Asn111Asp) rs2128241389
NM_001101.5(ACTB):c.411G>T (p.Gln137His) rs1388870915
NM_001101.5(ACTB):c.436G>A (p.Gly146Ser) rs2128241304
NM_001101.5(ACTB):c.437G>C (p.Gly146Ala) rs2128241303
NM_001101.5(ACTB):c.439C>A (p.Arg147Ser) rs2128241302
NM_001127898.4(CLCN5):c.1938del (p.Phe646fs) rs2147605760
NM_001128126.3(AP4S1):c.124C>T (p.Arg42Ter) rs387906970
NM_001128126.3(AP4S1):c.229G>T (p.Glu77Ter) rs568176223
NM_001128126.3(AP4S1):c.239_240insG (p.Ile80fs) rs2139067696
NM_001128126.3(AP4S1):c.49dup (p.Ser17fs) rs2139569112
NM_001130438.3(SPTAN1):c.3156-2A>G rs2131341713
NM_001142966.3(GREB1L):c.4276G>A (p.Val1426Ile) rs2036991057
NM_001142966.3(GREB1L):c.5068G>A (p.Val1690Met) rs1555663997
NM_001167623.2(CACNA1C):c.1213A>G (p.Ser405Gly) rs2154577345
NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln) rs1191455921
NM_001205293.3(CACNA1E):c.1042G>C (p.Gly348Arg) rs2102063243
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg) rs886039323
NM_001205293.3(CACNA1E):c.1807A>C (p.Ile603Leu) rs778291283
NM_001205293.3(CACNA1E):c.2069G>A (p.Gly690Asp) rs1361083258
NM_001205293.3(CACNA1E):c.2093T>C (p.Phe698Ser) rs869312920
NM_001205293.3(CACNA1E):c.2098G>A (p.Ala700Thr) rs2102499747
NM_001205293.3(CACNA1E):c.2101A>G (p.Ile701Val) rs1558308998
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001205293.3(CACNA1E):c.4264A>T (p.Ile1422Phe) rs2102689621
NM_001205293.3(CACNA1E):c.4274C>A (p.Thr1425Asn) rs2102689660
NM_001205293.3(CACNA1E):c.4288G>A (p.Gly1430Arg) rs1553345844
NM_001205293.3(CACNA1E):c.5159C>G (p.Ala1720Gly) rs2102795834
NM_001205293.3(CACNA1E):c.683T>C (p.Leu228Pro) rs1553286282
NM_001253852.3(AP4B1):c.114-2A>C rs879255396
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) rs587779388
NM_001253852.3(AP4B1):c.1181_1182del (p.Gln394fs) rs2101015147
NM_001253852.3(AP4B1):c.1282G>T (p.Glu428Ter) rs1060499756
NM_001253852.3(AP4B1):c.1328T>C (p.Leu443Pro) rs746890435
NM_001253852.3(AP4B1):c.1355del (p.Asn452fs) rs2100998416
NM_001253852.3(AP4B1):c.1496del (p.Leu499fs) rs2100997427
NM_001253852.3(AP4B1):c.1544del (p.Gly515fs) rs1667419336
NM_001253852.3(AP4B1):c.1608_1609insCA (p.Lys537fs) rs2100995157
NM_001253852.3(AP4B1):c.1655del (p.Pro552fs) rs2100994885
NM_001253852.3(AP4B1):c.1793-1G>A rs2100992189
NM_001253852.3(AP4B1):c.311_312delinsC (p.Leu104fs) rs797045244
NM_001253852.3(AP4B1):c.311del (p.Leu104fs) rs2101043631
NM_001253852.3(AP4B1):c.313del (p.Ala105fs) rs587783179
NM_001253852.3(AP4B1):c.405_409del (p.Tyr135_Arg137delinsTer) rs1553259463
NM_001253852.3(AP4B1):c.487_488insTAT (p.Glu163delinsValTer) rs2101035173
NM_001253852.3(AP4B1):c.530_531insA (p.Asn178fs) rs879255397
NM_001253852.3(AP4B1):c.664del (p.Leu222fs) rs1571563769
NM_001253852.3(AP4B1):c.955T>C (p.Phe319Leu) rs1060499771
NM_001253852.3(AP4B1):c.991C>T (p.Gln331Ter) rs2101024858
NM_001256071.3(RNF213):c.6169G>A (p.Asp2057Asn) rs768740459
NM_001256715.2(DNAAF3):c.174del (p.His59fs) rs1384651581
NM_001271049.2(CFAP221):c.2303_2307del (p.Leu768fs) rs2104806661
NM_001358921.2(COQ2):c.26dup (p.Ala10fs) rs1198292264
NM_001369.3(DNAH5):c.12009G>A (p.Trp4003Ter) rs2126564103
NM_001369.3(DNAH5):c.13760A>G (p.Tyr4587Cys) rs1320036244
NM_001369.3(DNAH5):c.1731-2A>T rs2151963411
NM_001369.3(DNAH5):c.2772del (p.Thr924_Leu925insTer) rs1554090622
NM_001369.3(DNAH5):c.3037_3040del (p.Val1014fs) rs1580731750
NM_001369.3(DNAH5):c.3598+2T>C rs981267400
NM_001369.3(DNAH5):c.4117-2A>G rs1467301649
NM_001369.3(DNAH5):c.5147G>C (p.Arg1716Pro) rs74799487
NM_001369.3(DNAH5):c.5588del (p.Phe1863fs) rs2151860332
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter) rs1273352530
NM_001369.3(DNAH5):c.6932_6935del (p.Asp2311fs) rs1554062097
NM_001369.3(DNAH5):c.6988+2T>C rs2151806960
NM_001369.3(DNAH5):c.8092_8097del (p.Val2698_Asp2699del) rs1757363484
NM_001369.3(DNAH5):c.8141del (p.Asn2714fs) rs2126910254
NM_001369.3(DNAH5):c.9799C>T (p.Gln3267Ter) rs923842695
NM_001374353.1(GLI2):c.1600G>A (p.Ala534Thr) rs1340215600
NM_001376.5(DYNC1H1):c.10030C>T (p.Arg3344Trp) rs2048519381
NM_001395656.1(ROBO2):c.292G>T (p.Gly98Trp) rs2071367863
NM_001448.3(GPC4):c.455del (p.Val152fs) rs2124120705
NM_001453.3(FOXC1):c.1025C>T (p.Ala342Val) rs773600190
NM_001453.3(FOXC1):c.1139G>T (p.Gly380Val) rs1581374640
NM_001453.3(FOXC1):c.207GCAGCC[3] (p.70QP[3]) rs780038931
NM_001453.3(FOXC1):c.430AAG[1] (p.Lys145del) rs768741176
NM_001453.3(FOXC1):c.926_940del (p.Ser309_Ile313del) rs774848608
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro) rs121964880
NM_001845.6(COL4A1):c.2512A>G (p.Met838Val) rs2139164333
NM_001845.6(COL4A1):c.2782G>C (p.Asp928His) rs2139163073
NM_001845.6(COL4A1):c.4213G>A (p.Gly1405Ser) rs1877181545
NM_001846.4(COL4A2):c.3472G>C (p.Gly1158Arg) rs2139537197
NM_001903.5(CTNNA1):c.2572_2586dup (p.Ser858_Lys862dup) rs2150359366
NM_002067.5(GNA11):c.547C>T (p.Arg183Cys) rs1555702147
NM_002204.4(ITGA3):c.1883G>C (p.Arg628Pro) rs140781106
NM_002204.4(ITGA3):c.2593del (p.Asp865fs) rs2144304926
NM_002292.4(LAMB2):c.143A>C (p.Tyr48Ser) rs776905329
NM_002292.4(LAMB2):c.4537C>T (p.Gln1513Ter) rs2107636063
NM_002386.4(MC1R):c.265G>C (p.Gly89Arg) rs34540312
NM_002386.4(MC1R):c.517GTC[1] (p.Val174del) rs747777879
NM_002386.4(MC1R):c.894C>G (p.Tyr298Ter) rs143395134
NM_002461.3(MVD):c.811_815del (p.Phe271fs) rs2142896426
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_003040.4(SLC4A2):c.2107G>A (p.Ala703Thr) rs1430578614
NM_003074.4(SMARCC1):c.1242_1243dup (p.Thr415fs) rs1576412227
NM_003074.4(SMARCC1):c.1577A>C (p.His526Pro) rs1576408057
NM_003074.4(SMARCC1):c.1589_1590insAGTGGGGACTC (p.Gln531fs) rs1576408050
NM_003074.4(SMARCC1):c.2672del (p.Lys891fs) rs1576390243
NM_003074.4(SMARCC1):c.535A>T (p.Lys179Ter) rs1576426439
NM_003108.4(SOX11):c.191G>A (p.Arg64His) rs2103276364
NM_003114.5(SPAG1):c.1119del (p.Ala374fs) rs1244721341
NM_003221.4(TFAP2B):c.1144C>T (p.Arg382Ter) rs2113960501
NM_003221.4(TFAP2B):c.3G>A (p.Met1Ile) rs2113920409
NM_003221.4(TFAP2B):c.601+2T>A rs2113937986
NM_003221.4(TFAP2B):c.827A>G (p.Lys276Arg) rs2113952620
NM_003235.5(TG):c.1076-1G>C rs1412480668
NM_003285.3(TNR):c.1594G>A (p.Asp532Asn) rs892080402
NM_003285.3(TNR):c.1899del (p.Glu634fs) rs1571360953
NM_003285.3(TNR):c.207C>G (p.Tyr69Ter) rs1389178206
NM_003285.3(TNR):c.2713C>T (p.Arg905Ter) rs1287757170
NM_003285.3(TNR):c.2744_2745del (p.Val915fs) rs1571339601
NM_003285.3(TNR):c.3357C>G (p.Ser1119Arg) rs1571329071
NM_003361.4(UMOD):c.1382C>A (p.Ala461Glu) rs780475918
NM_003361.4(UMOD):c.280T>C (p.Cys94Arg) rs2141676543
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr) rs398123697
NM_003396.3(WNT9B):c.11dup (p.Pro5fs) rs1291189006
NM_003396.3(WNT9B):c.949G>A (p.Gly317Arg) rs753748759
NM_003611.3(OFD1):c.2789_2793del (p.Ile930fs) rs797044945
NM_003611.3(OFD1):c.2862dup (p.Glu955Ter) rs2147086302
NM_003611.3(OFD1):c.2868del (p.Pro957fs) rs2147086315
NM_003647.3(DGKE):c.610del (p.Thr204fs) rs147972030
NM_003722.5(TP63):c.1012C>T (p.Arg338Cys) rs1404019220
NM_003901.4(SGPL1):c.1037G>T (p.Ser346Ile) rs1131692256
NM_003901.4(SGPL1):c.665G>A (p.Arg222Gln) rs769259446
NM_004297.4(GNA14):c.614A>T (p.Gln205Leu) rs1554685903
NM_004525.3(LRP2):c.12623C>A (p.Pro4208His) rs2105348670
NM_004525.3(LRP2):c.13139dup (p.Cys4381fs) rs80338754
NM_004525.3(LRP2):c.7564T>C (p.Tyr2522His) rs80338747
NM_004525.3(LRP2):c.857G>T (p.Cys286Phe) rs2105467271
NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp) rs869025541
NM_004646.4(NPHS1):c.139del (p.Ala47fs) rs386833882
NM_004646.4(NPHS1):c.1760T>G (p.Leu587Arg) rs386833892
NM_004646.4(NPHS1):c.2014G>A (p.Ala672Thr) rs1352354716
NM_004646.4(NPHS1):c.2020C>A (p.Pro674Thr) rs2146822238
NM_004646.4(NPHS1):c.2506+5G>T rs762704370
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004646.4(NPHS1):c.728C>T (p.Pro243Leu) rs919999972
NM_004722.4(AP4M1):c.1026-1G>T rs2116670931
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter) rs886041126
NM_004722.4(AP4M1):c.194_195del (p.Tyr65fs) rs777377185
NM_004722.4(AP4M1):c.218dup (p.Asn73fs) rs1321353475
NM_004722.4(AP4M1):c.330C>G (p.Tyr110Ter) rs752598529
NM_004722.4(AP4M1):c.521dup (p.Leu175fs) rs2116638409
NM_004722.4(AP4M1):c.544-8_544-3del rs1064794383
NM_004722.4(AP4M1):c.694del (p.Glu232fs) rs1584514057
NM_004722.4(AP4M1):c.694dup (p.Glu232fs) rs1584514057
NM_004722.4(AP4M1):c.851A>C (p.Tyr284Ser) rs1554380391
NM_004722.4(AP4M1):c.90del (p.Glu31fs) rs2116616864
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter) rs730882249
NM_004722.4(AP4M1):c.956G>A (p.Cys319Tyr) rs1057521784
NM_004722.4(AP4M1):c.974+1G>T rs1344550427
NM_004937.3(CTNS):c.809_811del (p.Ser270del) rs786204632
NM_004998.4(MYO1E):c.1228G>A (p.Glu410Lys) rs2140342702
NM_004998.4(MYO1E):c.1978C>T (p.Gln660Ter) rs2140319931
NM_005027.4(PIK3R2):c.1669G>T (p.Asp557Tyr) rs372272045
NM_005245.4(FAT1):c.9259C>G (p.Arg3087Gly) rs375998390
NM_005257.6(GATA6):c.1532C>G (p.Ser511Cys) rs1598738032
NM_005343.4(HRAS):c.145G>A (p.Glu49Lys) rs1277340795
NM_005343.4(HRAS):c.182A>G (p.Gln61Arg) rs121913233
NM_005343.4(HRAS):c.37G>A (p.Gly13Ser) rs104894228
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005378.6(MYCN):c.1178G>A (p.Arg393His) rs104893646
NM_005660.3(SLC35A2):c.164G>T (p.Arg55Leu) rs1557043650
NM_005660.3(SLC35A2):c.337_339dup (p.Leu113dup) rs2147489679
NM_005660.3(SLC35A2):c.634_635del (p.Ser212fs) rs1602338615
NM_005660.3(SLC35A2):c.747_757dup (p.Ala253fs) rs2147486766
NM_005660.3(SLC35A2):c.910T>C (p.Ser304Pro) rs2147486180
NM_006218.4(PIK3CA):c.1048G>A (p.Asp350Asn) rs1064793349
NM_006556.4(PMVK):c.379C>T (p.Gln127Ter) rs2101965598
NM_006580.4(CLDN16):c.485T>G (p.Phe162Cys) rs104893726
NM_006766.5(KAT6A):c.3661G>T (p.Glu1221Ter) rs139494583
NM_006939.4(SOS2):c.1126A>T (p.Thr376Ser) rs1594982548
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) rs869320687
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)
NM_007286.6(SYNPO):c.1808C>T (p.Pro603Leu) rs1464796596
NM_007325.5(GRIA3):c.1888G>A (p.Gly630Arg) rs587777361
NM_007347.5(AP4E1):c.1358_1359dup (p.Val454fs) rs2140861869
NM_007347.5(AP4E1):c.1833del (p.Ser612fs) rs2140878481
NM_007347.5(AP4E1):c.3277C>T (p.Gln1093Ter) rs773929706
NM_007347.5(AP4E1):c.3313C>T (p.Arg1105Ter) rs1313275799
NM_007347.5(AP4E1):c.542+5_542+8del rs2141147450
NM_007347.5(AP4E1):c.652_653del (p.Asp218fs) rs2063801225
NM_007347.5(AP4E1):c.881_891del (p.Leu294fs) rs2141164712
NM_007347.5(AP4E1):c.944-1G>C rs1555456727
NM_012144.4(DNAI1):c.1463del (p.Pro488fs) rs2132081705
NM_012144.4(DNAI1):c.1612G>A (p.Ala538Thr) rs368248592
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
NM_012330.4(KAT6B):c.4285G>A (p.Glu1429Lys) rs1846114839
NM_014112.5(TRPS1):c.2795C>T (p.Ala932Val) rs121908436
NM_014140.4(SMARCAL1):c.1736C>A (p.Ser579Ter) rs1694331040
NM_014140.4(SMARCAL1):c.1822T>C (p.Phe608Leu) rs2106050388
NM_014140.4(SMARCAL1):c.1940A>C (p.Lys647Thr) rs2106055226
NM_014208.3(DSPP):c.3135del (p.Ser1045fs) rs1553904372
NM_014208.3(DSPP):c.3504_3508dup (p.Asp1170fs) rs1553904512
NM_014553.3(TFCP2L1):c.689del (p.Asp230fs) rs2104690970
NM_014625.4(NPHS2):c.1059_1060del (p.Ser354fs) rs2125764106
NM_014625.4(NPHS2):c.1120A>T (p.Asn374Tyr) rs2125763683
NM_014625.4(NPHS2):c.1A>T (p.Met1Leu) rs2101887841
NM_014625.4(NPHS2):c.397del (p.Arg133fs) rs1481262338
NM_014625.4(NPHS2):c.419del (p.Gly140fs) rs749779208
NM_014625.4(NPHS2):c.742G>A (p.Ala248Thr) rs2125780619
NM_014625.4(NPHS2):c.910_918del (p.Ser304_Arg306del) rs2125765369
NM_014669.5(NUP93):c.1886A>G (p.Tyr629Cys) rs757674160
NM_014967.5(FAN1):c.2590C>T (p.Gln864Ter) rs767651793
NM_015143.3(METAP1):c.865C>T (p.Arg289Ter) rs779530889
NM_016059.5(PPIL1):c.245T>C (p.Phe82Ser) rs2150653717
NM_016059.5(PPIL1):c.295G>A (p.Ala99Thr) rs199818754
NM_016059.5(PPIL1):c.301_318dup (p.Ala101_Asp106dup) rs2150653427
NM_016059.5(PPIL1):c.319A>G (p.Thr107Ala) rs1583103432
NM_016059.5(PPIL1):c.325G>T (p.Gly109Cys) rs2150653422
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs) rs750130520
NM_016239.4(MYO15A):c.9467T>C (p.Leu3156Pro) rs2046774616
NM_016341.4(PLCE1):c.1709del (p.Ser570fs) rs2136320656
NM_016341.4(PLCE1):c.2576_2577insT (p.Gln859fs) rs2137512478
NM_016341.4(PLCE1):c.3379_3380del (p.Ile1126_Asn1127insTer) rs2132855762
NM_016341.4(PLCE1):c.4506+2T>C rs2133127123
NM_016341.4(PLCE1):c.4887del (p.Ala1630fs) rs747229979
NM_016341.4(PLCE1):c.4978_4981del (p.Gln1660fs) rs1589475328
NM_016341.4(PLCE1):c.5521A>G (p.Lys1841Glu) rs2133612592
NM_016341.4(PLCE1):c.5951_5953del (p.Asn1984del) rs2133673643
NM_017950.4(CCDC40):c.3358C>T (p.Gln1120Ter) rs2143789412
NM_017950.4(CCDC40):c.93+2T>C rs2037179047
NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs) rs765211108
NM_018384.5(GIMAP5):c.667C>T (p.Leu223Phe) rs2116581086
NM_019024.3(HEATR5B):c.5050+4A>G rs1667224478
NM_019024.3(HEATR5B):c.5051-1G>A rs1667163007
NM_021147.5(CCNO):c.248_252dup (p.Gly85fs) rs587777498
NM_021147.5(CCNO):c.258_262dup (p.Gln88fs) rs587777499
NM_022489.4(INF2):c.353T>A (p.Ile118Asn) rs2140639518
NM_022489.4(INF2):c.532T>G (p.Phe178Val) rs2140648131
NM_023110.3(FGFR1):c.625C>T (p.Arg209Cys) rs1554564353
NM_023110.3(FGFR1):c.6G>A (p.Trp2Ter) rs1554594114
NM_024735.5(FBXO31):c.1000G>A (p.Asp334Asn) rs2150668444
NM_024753.5(TTC21B):c.1038G>A (p.Trp346Ter) rs2105344578
NM_024753.5(TTC21B):c.986A>T (p.Glu329Val) rs746459698
NM_030662.4(MAP2K2):c.692G>T (p.Arg231Leu) rs730880511
NM_030912.3(TRIM8):c.1163del (p.Phe388fs) rs2135984840
NM_030912.3(TRIM8):c.1231C>T (p.Gln411Ter) rs2135984949
NM_030912.3(TRIM8):c.1240C>T (p.Gln414Ter) rs2135984958
NM_030912.3(TRIM8):c.1267C>T (p.Gln423Ter) rs2064030858
NM_030912.3(TRIM8):c.1333C>T (p.Gln445Ter) rs2135985076
NM_030912.3(TRIM8):c.1375C>T (p.Gln459Ter) rs866294686
NM_030912.3(TRIM8):c.1380T>A (p.Tyr460Ter) rs2135985150
NM_030912.3(TRIM8):c.1461C>G (p.Tyr487Ter) rs1387656757
NM_032756.4(HPDL):c.1072T>G (p.Trp358Gly) rs2149082406
NM_032756.4(HPDL):c.110G>C (p.Arg37Pro) rs745594303
NM_032756.4(HPDL):c.232G>A (p.Ala78Thr) rs1360472871
NM_032756.4(HPDL):c.256del (p.Ala86fs) rs753787033
NM_032756.4(HPDL):c.27C>A (p.Cys9Ter) rs1373645311
NM_032756.4(HPDL):c.342_345dup (p.Ala116fs) rs1644248738
NM_032756.4(HPDL):c.418G>A (p.Gly140Arg) rs758727749
NM_032756.4(HPDL):c.493A>C (p.Thr165Pro) rs1446895238
NM_032756.4(HPDL):c.518C>A (p.Ser173Tyr) rs2149081821
NM_032756.4(HPDL):c.523_529del (p.Thr175fs) rs2149081832
NM_032756.4(HPDL):c.529_530del (p.Leu177fs) rs1644253428
NM_032756.4(HPDL):c.569C>T (p.Pro190Leu) rs368625962
NM_032756.4(HPDL):c.650T>C (p.Leu217Pro) rs1297494568
NM_032756.4(HPDL):c.679del (p.Thr227fs) rs2149081995
NM_032756.4(HPDL):c.692C>G (p.Ala231Gly) rs756300449
NM_032756.4(HPDL):c.769_771delinsTC (p.Gln257fs) rs2149082096
NM_032756.4(HPDL):c.788C>G (p.Thr263Arg) rs116004018
NM_032756.4(HPDL):c.816_817del (p.Val273fs) rs2149082140
NM_032756.4(HPDL):c.995del (p.Thr332fs) rs1167901073
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_032856.5(WDR73):c.940C>T (p.Gln314Ter) rs797044994
NM_033380.3(COL4A5):c.2396G>A (p.Gly799Asp) rs2147849728
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser) rs104886210
NM_033380.3(COL4A5):c.3722G>A (p.Gly1241Asp) rs281874721
NM_033629.6(TREX1):c.830_833dup (p.Asp278fs) rs2107265602
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_138694.4(PKHD1):c.820dup (p.Arg274fs) rs1582064844
NM_138694.4(PKHD1):c.880+1G>C rs1582064292
NM_138694.4(PKHD1):c.9208C>T (p.Gln3070Ter) rs1582441455
NM_144773.4(PROKR2):c.332T>G (p.Met111Arg) rs914930539
NM_152732.5(RSPH9):c.244del (p.Trp82fs) rs2127891310
NM_173494.2(DNAAF6):c.332+1G>A rs2147829163
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val) rs1131692048
NM_177400.3(NKX6-2):c.592A>G (p.Asn198Asp) rs2134706153
NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln) rs1008088032
NM_178452.6(DNAAF1):c.778C>T (p.Gln260Ter) rs2087613070
NM_178452.6(DNAAF1):c.831C>G (p.Tyr277Ter) rs1396269749
NM_181426.2(CCDC39):c.1045del (p.Thr349fs) rs747980515
NM_181426.2(CCDC39):c.1484_1485del (p.Lys495fs) rs751239231
NM_181426.2(CCDC39):c.350A>G (p.Asp117Gly) rs1560092712
NM_181426.2(CCDC39):c.436del (p.Trp146fs) rs2108429507
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs) rs773801386
NM_182758.4(WDR72):c.477_485dup (p.Ile159_Cys161dup) rs2140558454
NM_182758.4(WDR72):c.764_768del (p.Gly255fs) rs1469562355
NM_182920.2(ADAMTS9):c.4575_4576del (p.Gln1525fs) rs2106648140
NM_197968.4(ZMYM2):c.1192C>T (p.Gln398Ter) rs2139949646
NM_197968.4(ZMYM2):c.1367dup (p.Tyr456Ter) rs2139974502
NM_197968.4(ZMYM2):c.1607del (p.Cys536fs) rs2140253640
NM_197968.4(ZMYM2):c.1618C>T (p.Arg540Ter) rs1309291116
NM_197968.4(ZMYM2):c.1623_1627del (p.Cys543fs) rs2140253913
NM_197968.4(ZMYM2):c.2165T>A (p.Leu722Ter) rs2140369057
NM_197968.4(ZMYM2):c.2338C>T (p.Arg780Ter) rs757669327
NM_197968.4(ZMYM2):c.2434_2437del (p.Lys812fs) rs2140576563
NM_197968.4(ZMYM2):c.2494-1G>A rs2140726371
NM_197968.4(ZMYM2):c.3130_3131dup (p.Gly1045fs) rs753611080
NM_197968.4(ZMYM2):c.3176dup (p.Asp1059fs) rs2140884265
NM_197968.4(ZMYM2):c.3246G>A (p.Trp1082Ter) rs2140884891
NM_197968.4(ZMYM2):c.622C>T (p.Arg208Ter) rs2139746476
NM_197968.4(ZMYM2):c.766_767dup (p.Val256_Gly257insTer) rs2139748846
NM_207361.6(FREM2):c.2533C>T (p.His845Tyr) rs1869732816
NM_207361.6(FREM2):c.649C>T (p.Arg217Cys) rs199674984

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