ClinVar Miner

List of variants reported as uncertain significance by Genome Diagnostics Laboratory, Amsterdam University Medical Center

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 320
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val) rs116005007 0.00425
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001 0.00284
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe) rs34226296 0.00268
NM_002542.6(OGG1):c.137G>A (p.Arg46Gln) rs104893751 0.00233
NM_000122.2(ERCC3):c.2111C>T (p.Ser704Leu) rs4150521 0.00227
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_000389.5(CDKN1A):c.350G>A (p.Cys117Tyr) rs148679597 0.00196
NM_014967.5(FAN1):c.149T>G (p.Met50Arg) rs148404807 0.00191
NM_006074.5(TRIM22):c.247G>A (p.Glu83Lys) rs200668710 0.00186
NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys) rs45496998 0.00176
NM_001126049.2(KLLN):c.339_340del (p.Ala115fs) rs749052307 0.00173
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_000301.5(PLG):c.1469G>A (p.Arg490Gln) rs140537724 0.00140
NM_000540.3(RYR1):c.2797G>A (p.Ala933Thr) rs148623597 0.00137
NM_001388492.1(HTT):c.3244G>C (p.Asp1082His) rs1065746 0.00133
NM_133372.3(FNIP1):c.1553G>A (p.Arg518Gln) rs115209326 0.00131
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln) rs138246328 0.00116
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu) rs201089582 0.00116
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met) rs146344855 0.00113
NM_001291303.3(FAT4):c.3402A>T (p.Glu1134Asp) rs144768563 0.00113
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455 0.00110
NM_181882.3(PRX):c.823C>A (p.Leu275Ile) rs200033507 0.00108
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp) rs145643238 0.00103
NM_002608.4(PDGFB):c.670C>T (p.Arg224Trp) rs146468845 0.00093
NM_005559.4(LAMA1):c.2808+5G>A rs201030108 0.00089
NM_015959.4(TMX2):c.180C>G (p.Asp60Glu) rs143908831 0.00087
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) rs201758548 0.00071
NM_017872.5(THG1L):c.287A>T (p.Asp96Val) rs139588885 0.00070
NM_052872.4(IL17F):c.254+1G>T rs117796773 0.00070
NM_178138.6(LHX3):c.929G>C (p.Arg310Pro) rs201591640 0.00070
NM_000079.4(CHRNA1):c.224G>A (p.Arg75His) rs147488907 0.00069
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu) rs146579299 0.00068
NM_201384.3(PLEC):c.5024G>A (p.Arg1675Gln) rs370569372 0.00064
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp) rs148046938 0.00063
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu) rs117583120 0.00061
NM_001206927.2(DNAH8):c.14059C>T (p.Arg4687Ter) rs146551804 0.00058
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala) rs143389605 0.00055
NM_001849.4(COL6A2):c.791G>A (p.Arg264His) rs148029276 0.00052
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872 0.00047
NM_033629.6(TREX1):c.739G>C (p.Ala247Pro) rs112741962 0.00047
NM_004562.3(PRKN):c.766C>T (p.Arg256Cys) rs150562946 0.00046
NM_004727.3(SLC24A1):c.2183C>T (p.Ala728Val) rs201943537 0.00045
NM_207346.3(TSEN54):c.1114G>A (p.Val372Met) rs200434678 0.00045
NM_000096.4(CP):c.788A>G (p.Asn263Ser) rs150303869 0.00041
NM_001364905.1(LRBA):c.1771T>C (p.Tyr591His) rs138890467 0.00038
NM_001922.5(DCT):c.125C>T (p.Pro42Leu) rs140411565 0.00037
NM_001164508.2(NEB):c.22370G>C (p.Ser7457Thr) rs142454476 0.00035
NM_000271.5(NPC1):c.180G>T (p.Gln60His) rs145666943 0.00034
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_014727.3(KMT2B):c.4561C>T (p.Arg1521Trp) rs374069613 0.00034
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_001136472.2(LITAF):c.44C>T (p.Ser15Leu) rs138041990 0.00031
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr) rs201358641 0.00031
NM_183357.3(ADCY5):c.3253G>A (p.Val1085Ile) rs149775261 0.00031
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016 0.00030
NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu) rs137906617 0.00029
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser) rs41554817 0.00029
NM_004369.4(COL6A3):c.5833G>C (p.Val1945Leu) rs113332380 0.00029
NM_015214.3(DDHD2):c.1982A>G (p.Tyr661Cys) rs201656753 0.00027
NM_000094.4(COL7A1):c.1348C>T (p.Arg450Cys) rs139434755 0.00026
NM_001267550.2(TTN):c.16477G>A (p.Gly5493Ser) rs377042940 0.00026
NM_001369.3(DNAH5):c.4961G>A (p.Arg1654Gln) rs150868941 0.00026
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949 0.00025
NM_133642.5(LARGE1):c.178C>T (p.Arg60Trp) rs142135345 0.00025
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val) rs147187907 0.00022
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln) rs200831060 0.00020
NM_144997.7(FLCN):c.396+4A>G rs370353839 0.00020
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_001458.5(FLNC):c.1924G>A (p.Val642Ile) rs369387744 0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp) rs199761238 0.00019
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His) rs376982715 0.00018
NM_003239.5(TGFB3):c.412T>G (p.Ser138Ala) rs201453600 0.00018
NM_014639.4(SKIC3):c.3808C>G (p.Pro1270Ala) rs146627706 0.00018
NM_053025.4(MYLK):c.2461C>T (p.Arg821Trp) rs150007422 0.00018
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_004667.6(HERC2):c.293T>C (p.Leu98Pro) rs142254143 0.00017
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala) rs41295280 0.00016
NM_002693.3(POLG):c.32G>A (p.Gly11Asp) rs765472726 0.00016
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554 0.00016
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr) rs199472676 0.00015
NM_004380.3(CREBBP):c.2846C>T (p.Pro949Leu) rs147083140 0.00015
NM_005591.4(MRE11):c.1504C>T (p.Arg502Cys) rs186333183 0.00015
NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg) rs147008323 0.00015
NM_000784.4(CYP27A1):c.215T>A (p.Leu72Gln) rs138189735 0.00014
NM_006612.6(KIF1C):c.2920G>A (p.Asp974Asn) rs550136320 0.00014
NM_025137.4(SPG11):c.2318T>G (p.Val773Gly) rs182080501 0.00014
NM_182961.4(SYNE1):c.23222A>G (p.Tyr7741Cys) rs34974663 0.00014
NM_000041.4(APOE):c.434G>A (p.Gly145Asp) rs267606664 0.00013
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His) rs768360593 0.00013
NM_001267550.2(TTN):c.36803C>G (p.Pro12268Arg) rs997014833 0.00013
NM_020812.4(DOCK6):c.3191T>C (p.Leu1064Pro) rs370735885 0.00013
NM_001267550.2(TTN):c.36737A>T (p.Glu12246Val) rs786205395 0.00012
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608 0.00011
NM_001365276.2(TNXB):c.12210+5G>A rs4959085 0.00011
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232 0.00011
NM_003995.4(NPR2):c.830A>G (p.Asn277Ser) rs770531192 0.00011
NM_013254.4(TBK1):c.871A>G (p.Lys291Glu) rs34774243 0.00011
NM_016938.5(EFEMP2):c.1065C>A (p.Ser355Arg) rs377646143 0.00011
NM_000093.5(COL5A1):c.1970C>T (p.Pro657Leu) rs149912828 0.00010
NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys) rs369717556 0.00010
NM_003239.5(TGFB3):c.873G>A (p.Pro291=) rs370006165 0.00010
NM_018718.3(CEP41):c.5C>T (p.Ser2Phe) rs782137799 0.00010
NM_020919.4(ALS2):c.3331G>A (p.Gly1111Ser) rs371454893 0.00010
NM_000747.3(CHRNB1):c.647G>A (p.Arg216Gln) rs200684767 0.00009
NM_001267550.2(TTN):c.51668G>A (p.Arg17223Gln) rs142395261 0.00009
NM_001267550.2(TTN):c.63907G>A (p.Val21303Met) rs372812312 0.00009
NM_001267550.2(TTN):c.72674C>T (p.Pro24225Leu) rs55992239 0.00009
NM_001368067.1(LDB3):c.433G>A (p.Gly145Ser) rs376489385 0.00009
NM_002471.4(MYH6):c.4828C>T (p.Arg1610Cys) rs780726611 0.00009
NM_006612.6(KIF1C):c.1346A>G (p.Lys449Arg) rs142046798 0.00009
NM_007126.5(VCP):c.1202A>G (p.Asn401Ser) rs148329626 0.00009
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085 0.00009
NM_014850.4(SRGAP3):c.2554G>A (p.Gly852Ser) rs201629131 0.00009
NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg) rs144189837 0.00008
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr) rs63751454 0.00008
NM_001267550.2(TTN):c.98431C>T (p.Arg32811Cys) rs371807358 0.00008
NM_002637.4(PHKA1):c.2335C>A (p.Gln779Lys) rs144670958 0.00008
NM_020526.5(EPHA8):c.277G>A (p.Gly93Ser) rs150553424 0.00008
NM_006059.4(LAMC3):c.2353C>T (p.Arg785Cys) rs144930767 0.00007
NM_024529.5(CDC73):c.1333G>A (p.Val445Ile) rs368442389 0.00007
NM_144997.7(FLCN):c.552C>A (p.Asn184Lys) rs143525924 0.00007
NM_201384.3(PLEC):c.4075C>T (p.Arg1359Cys) rs541323979 0.00007
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys) rs63750796 0.00006
NM_000334.4(SCN4A):c.5218C>T (p.Arg1740Trp) rs373804267 0.00006
NM_001257180.2(SLC20A2):c.542G>A (p.Arg181Gln) rs140059610 0.00006
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met) rs368282893 0.00006
NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val) rs199822303 0.00006
NM_001458.5(FLNC):c.1885C>T (p.Arg629Trp) rs759376455 0.00006
NM_002055.5(GFAP):c.1171+474G>A rs370385098 0.00006
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) rs144500145 0.00006
NM_017617.5(NOTCH1):c.3001G>A (p.Gly1001Ser) rs763621169 0.00006
NM_020919.4(ALS2):c.2712G>A (p.Thr904=) rs201200488 0.00006
NM_021625.5(TRPV4):c.1139C>T (p.Thr380Met) rs764949536 0.00006
NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter) rs142902080 0.00006
NM_031407.7(HUWE1):c.2387A>T (p.Gln796Leu) rs140366563 0.00006
NM_032415.7(CARD11):c.2542C>T (p.Arg848Cys) rs753952757 0.00006
NM_053025.4(MYLK):c.4565T>C (p.Val1522Ala) rs763880352 0.00006
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg) rs201583907 0.00006
NM_000104.4(CYP1B1):c.644G>T (p.Ser215Ile) rs72549384 0.00005
NM_000230.3(LEP):c.496G>C (p.Gly166Arg) rs759854910 0.00005
NM_001267550.2(TTN):c.19481T>G (p.Leu6494Arg) rs376857772 0.00005
NM_001291415.2(KDM6A):c.2018G>A (p.Arg673His) rs369284316 0.00005
NM_001927.4(DES):c.1123C>T (p.Arg375Trp) rs375218723 0.00005
NM_002485.5(NBN):c.664T>C (p.Phe222Leu) rs541992192 0.00005
NM_003239.5(TGFB3):c.559G>A (p.Gly187Ser) rs201063101 0.00005
NM_017617.5(NOTCH1):c.4492A>G (p.Lys1498Glu) rs745681787 0.00005
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu) rs141087784 0.00004
NM_000138.5(FBN1):c.6055G>A (p.Glu2019Lys) rs377149130 0.00004
NM_000249.4(MLH1):c.52C>T (p.Arg18Cys) rs367654552 0.00004
NM_000754.4(COMT):c.535A>T (p.Lys179Ter) rs770596060 0.00004
NM_001113491.2(SEPTIN9):c.974G>A (p.Arg325Gln) rs377514245 0.00004
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu) rs183482849 0.00004
NM_001267550.2(TTN):c.80905G>A (p.Val26969Ile) rs377667066 0.00004
NM_001849.4(COL6A2):c.202T>C (p.Phe68Leu) rs766930447 0.00004
NM_001854.4(COL11A1):c.4627A>C (p.Ile1543Leu) rs558548172 0.00004
NM_002474.3(MYH11):c.4403C>T (p.Ala1468Val) rs370240337 0.00004
NM_006790.3(MYOT):c.1159G>A (p.Glu387Lys) rs373489115 0.00004
NM_018480.7(TMEM126B):c.589A>G (p.Met197Val) rs181963507 0.00004
NM_176787.5(PIGN):c.2354G>A (p.Arg785His) rs535563062 0.00004
NM_182961.4(SYNE1):c.21613G>A (p.Val7205Met) rs377449974 0.00004
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys) rs377597949 0.00003
NM_000540.3(RYR1):c.821G>C (p.Arg274Pro) rs368711923 0.00003
NM_000553.6(WRN):c.2978G>A (p.Arg993His) rs370713742 0.00003
NM_001145252.3(CFP):c.580G>A (p.Gly194Arg) rs755651023 0.00003
NM_001267550.2(TTN):c.9958G>A (p.Ala3320Thr) rs144100066 0.00003
NM_001374675.1(HSF4):c.1477T>G (p.Ter493Glu) rs1239772837 0.00003
NM_002878.4(RAD51D):c.202G>A (p.Gly68Ser) rs775045445 0.00003
NM_003242.6(TGFBR2):c.94+16273G>A rs781529108 0.00003
NM_003477.3(PDHX):c.299_301dup (p.Val100_Thr101insIle) rs1279606482 0.00003
NM_005902.4(SMAD3):c.394A>G (p.Thr132Ala) rs371876622 0.00003
NM_017617.5(NOTCH1):c.2003C>T (p.Pro668Leu) rs576030298 0.00003
NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr) rs544856644 0.00003
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg) rs770839761 0.00002
NM_000540.3(RYR1):c.11302C>T (p.Arg3768Trp) rs910313832 0.00002
NM_001101362.3(KBTBD13):c.251G>C (p.Cys84Ser) rs999785767 0.00002
NM_001267550.2(TTN):c.51067G>A (p.Gly17023Arg) rs745424139 0.00002
NM_001288705.3(CSF1R):c.1913G>C (p.Ser638Thr) rs541530647 0.00002
NM_001376.5(DYNC1H1):c.9178C>T (p.Arg3060Cys) rs773658296 0.00002
NM_001845.6(COL4A1):c.1807C>T (p.Pro603Ser) rs747585517 0.00002
NM_001848.3(COL6A1):c.1982G>A (p.Gly661Asp) rs771702139 0.00002
NM_003900.5(SQSTM1):c.139C>G (p.Leu47Val) rs779786150 0.00002
NM_005267.5(GJA8):c.553C>T (p.Arg185Trp) rs201445539 0.00002
NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp) rs587782268 0.00002
NM_020451.3(SELENON):c.1427C>T (p.Ser476Leu) rs368377980 0.00002
NM_181303.2(NLGN3):c.2399C>T (p.Pro800Leu) rs200889500 0.00002
NM_181332.3(NLGN4X):c.847G>A (p.Ala283Thr) rs766959779 0.00002
NM_201384.3(PLEC):c.9544A>G (p.Ser3182Gly) rs1554681219 0.00002
NM_000051.4(ATM):c.8155C>T (p.Arg2719Cys) rs138526014 0.00001
NM_000051.4(ATM):c.8327T>C (p.Ile2776Thr) rs746475628 0.00001
NM_000051.4(ATM):c.8762C>T (p.Thr2921Met) rs730881329 0.00001
NM_000138.5(FBN1):c.2979C>T (p.Cys993=) rs150126098 0.00001
NM_000138.5(FBN1):c.6659G>A (p.Arg2220Gln) rs780651466 0.00001
NM_000157.4(GBA1):c.1475A>T (p.Asp492Val) rs771744004 0.00001
NM_000179.3(MSH6):c.3679A>T (p.Ile1227Leu) rs587779282 0.00001
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342 0.00001
NM_000540.3(RYR1):c.10043G>A (p.Arg3348His) rs193922834 0.00001
NM_000548.5(TSC2):c.1366G>A (p.Glu456Lys) rs397515142 0.00001
NM_000548.5(TSC2):c.4408C>T (p.Arg1470Cys) rs767889030 0.00001
NM_001010892.3(RSPH4A):c.1881C>A (p.Asn627Lys) rs1176590941 0.00001
NM_001080467.3(MYO5B):c.655C>T (p.Arg219Cys) rs755378266 0.00001
NM_001081.4(CUBN):c.10471A>G (p.Ser3491Gly) rs1183879233 0.00001
NM_001110556.2(FLNA):c.5900C>T (p.Ser1967Phe) rs1557176208 0.00001
NM_001110556.2(FLNA):c.6565G>A (p.Glu2189Lys) rs1405780478 0.00001
NM_001199280.2(HAS3):c.202C>T (p.Arg68Trp) rs780923057 0.00001
NM_001267550.2(TTN):c.104018T>C (p.Met34673Thr) rs886042330 0.00001
NM_001267550.2(TTN):c.32936A>C (p.Glu10979Ala) rs776641064 0.00001
NM_001267550.2(TTN):c.50293A>C (p.Lys16765Gln) rs1173417812 0.00001
NM_001267550.2(TTN):c.53445A>G (p.Ile17815Met) rs370843257 0.00001
NM_001267550.2(TTN):c.67834G>A (p.Asp22612Asn) rs757888367 0.00001
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp) rs373527654 0.00001
NM_001267550.2(TTN):c.83404A>G (p.Ile27802Val) rs727504723 0.00001
NM_001374828.1(ARID1B):c.4091C>T (p.Ser1364Leu) rs1187357394 0.00001
NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg) rs886042922 0.00001
NM_001999.4(FBN2):c.3280G>A (p.Gly1094Arg) rs758659538 0.00001
NM_002180.3(IGHMBP2):c.167G>A (p.Arg56His) rs571887680 0.00001
NM_002180.3(IGHMBP2):c.181G>C (p.Gly61Arg) rs1057518943 0.00001
NM_002335.4(LRP5):c.3232C>G (p.Arg1078Gly) rs765402802 0.00001
NM_002880.4(RAF1):c.29C>T (p.Thr10Met) rs144637992 0.00001
NM_003000.3(SDHB):c.635T>A (p.Leu212His) rs1307247907 0.00001
NM_004281.4(BAG3):c.794C>T (p.Pro265Leu) rs769034041 0.00001
NM_004281.4(BAG3):c.826C>T (p.Arg276Trp) rs759573189 0.00001
NM_004320.6(ATP2A1):c.1324G>A (p.Glu442Lys) rs772006459 0.00001
NM_004369.4(COL6A3):c.5777C>T (p.Thr1926Met) rs763172498 0.00001
NM_004463.3(FGD1):c.2168G>A (p.Arg723Gln) rs1253728802 0.00001
NM_004612.4(TGFBR1):c.1205A>G (p.Tyr402Cys) rs762486367 0.00001
NM_004984.4(KIF5A):c.2452G>A (p.Glu818Lys) rs766050696 0.00001
NM_005188.4(CBL):c.1649G>A (p.Arg550Gln) rs1949973841 0.00001
NM_005297.4(MCHR1):c.530C>T (p.Pro177Leu) rs762669619 0.00001
NM_005592.4(MUSK):c.629-3C>T rs577774989 0.00001
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys) rs886041241 0.00001
NM_005902.4(SMAD3):c.401T>C (p.Val134Ala) rs863223767 0.00001
NM_006258.4(PRKG1):c.1016T>C (p.Leu339Ser) rs775720873 0.00001
NM_006772.3(SYNGAP1):c.2837G>A (p.Gly946Glu) rs752316341 0.00001
NM_007078.3(LDB3):c.1870G>A (p.Ala624Thr) rs879218802 0.00001
NM_007078.3(LDB3):c.742G>A (p.Ala248Thr) rs369419493 0.00001
NM_007078.3(LDB3):c.796C>T (p.Arg266Cys) rs776803568 0.00001
NM_007194.4(CHEK2):c.507T>G (p.Phe169Leu) rs876659233 0.00001
NM_012309.5(SHANK2):c.2699C>T (p.Pro900Leu) rs2058829550 0.00001
NM_019594.4(LRRC8A):c.670G>A (p.Val224Met) rs958031501 0.00001
NM_020549.5(CHAT):c.1679G>A (p.Arg560His) rs121912819 0.00001
NM_032119.4(ADGRV1):c.7735G>A (p.Val2579Met) rs755818826 0.00001
NM_153252.5(BRWD3):c.3433G>A (p.Glu1145Lys) rs1085307469 0.00001
NM_173500.4(TTBK2):c.3328C>T (p.Arg1110Cys) rs562644902 0.00001
NM_182961.4(SYNE1):c.1544T>A (p.Leu515Gln) rs544309811 0.00001
NM_000051.4(ATM):c.501G>T (p.Leu167Phe) rs1181703620
NM_000051.4(ATM):c.649_651dup (p.Ile217dup) rs1565369864
NM_000051.4(ATM):c.8659C>G (p.His2887Asp) rs1591274530
NM_000052.7(ATP7A):c.961T>C (p.Tyr321His) rs2149083216
NM_000090.4(COL3A1):c.821A>G (p.Glu274Gly) rs1688177791
NM_000110.4(DPYD):c.1925T>C (p.Met642Thr) rs2101564724
NM_000138.5(FBN1):c.2508T>A (p.Ser836Arg) rs193922190
NM_000138.5(FBN1):c.6314A>T (p.Glu2105Val) rs1165109120
NM_000214.3(JAG1):c.611A>G (p.Asp204Gly) rs2122623598
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del) rs587781278
NM_000314.8(PTEN):c.41G>A (p.Arg14Lys) rs1589596246
NM_000400.4(ERCC2):c.1802G>A (p.Arg601Gln) rs140522180
NM_000525.4(KCNJ11):c.973C>A (p.Arg325Ser) rs550315112
NM_001101362.3(KBTBD13):c.742C>T (p.Arg248Cys) rs200549195
NM_001110556.2(FLNA):c.1192G>T (p.Ala398Ser) rs782633612
NM_001110556.2(FLNA):c.2993C>G (p.Ala998Gly) rs782099443
NM_001110556.2(FLNA):c.5152G>A (p.Gly1718Ser) rs2148107431
NM_001244008.2(KIF1A):c.110T>C (p.Ile37Thr) rs2055352103
NM_001267550.2(TTN):c.14582A>G (p.Asp4861Gly) rs566100734
NM_001267550.2(TTN):c.29572A>G (p.Lys9858Glu) rs2154291591
NM_001267550.2(TTN):c.88037A>T (p.Asp29346Val) rs374741129
NM_001270974.2(HYDIN):c.11472-2A>G rs200565025
NM_001376.5(DYNC1H1):c.12191C>T (p.Thr4064Met) rs750249796
NM_001458.5(FLNC):c.3055G>A (p.Gly1019Ser) rs200864007
NM_001458.5(FLNC):c.6824G>T (p.Ser2275Ile) rs2128939487
NM_001658.4(ARF1):c.296G>A (p.Arg99His) rs1558087712
NM_001715.3(BLK):c.391C>T (p.Arg131Trp) rs73663163
NM_001845.6(COL4A1):c.2657C>T (p.Thr886Ile) rs770887997
NM_001852.4(COL9A2):c.1982C>G (p.Pro661Arg) rs150687987
NM_001904.4(CTNNB1):c.1140C>G (p.Asn380Lys) rs1334749796
NM_002070.4(GNAI2):c.535C>T (p.Arg179Cys) rs137853226
NM_002609.4(PDGFRB):c.1574C>T (p.Pro525Leu) rs2113902466
NM_002637.4(PHKA1):c.1508G>A (p.Gly503Glu) rs1049971949
NM_002819.5(PTBP1):c.1A>G (p.Met1Val) rs2145008460
NM_002880.4(RAF1):c.1770G>C (p.Lys590Asn) rs773583951
NM_003001.5(SDHC):c.202T>C (p.Ser68Pro) rs2102336180
NM_003105.6(SORL1):c.2441G>A (p.Arg814His) rs372764840
NM_003280.3(TNNC1):c.157A>G (p.Thr53Ala) rs1553651742
NM_003545.4(H4C5):c.136C>T (p.Arg46Cys) rs950721550
NM_003673.4(TCAP):c.313G>A (p.Glu105Lys) rs146906267
NM_003680.4(YARS1):c.40A>T (p.Ile14Phe) rs763337272
NM_004092.4(ECHS1):c.563C>T (p.Ala188Val) rs1164154836
NM_004281.4(BAG3):c.1663_1666dup (p.Ala556fs) rs1273311196
NM_004380.3(CREBBP):c.7282G>C (p.Gly2428Arg) rs761138453
NM_005529.7(HSPG2):c.3505G>A (p.Glu1169Lys) rs970856044
NM_005902.4(SMAD3):c.728G>C (p.Arg243Pro) rs863223736
NM_006258.4(PRKG1):c.421A>G (p.Lys141Glu) rs761759814
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006502.3(POLH):c.1247CTC[2] (p.Pro418del) rs747834463
NM_006854.4(KDELR2):c.34C>G (p.His12Asp) rs1785976222
NM_007118.4(TRIO):c.3233G>A (p.Arg1078Gln) rs1745369142
NM_007194.4(CHEK2):c.115T>C (p.Ser39Pro) rs1060502696
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys) rs200928781
NM_007194.4(CHEK2):c.239C>A (p.Pro80His) rs876659006
NM_007194.4(CHEK2):c.983T>C (p.Phe328Ser) rs1555915377
NM_017534.6(MYH2):c.5148T>A (p.Ser1716Arg) rs2073323301
NM_018206.6(VPS35):c.2222A>C (p.Gln741Pro) rs547805228
NM_020134.4(DPYSL5):c.121G>A (p.Glu41Lys) rs866373727
NM_020631.6(PLEKHG5):c.335G>T (p.Gly112Val) rs2148591435
NM_020928.2(ZSWIM6):c.442GGC[5] (p.Gly153_Gly154del) rs864309616
NM_022041.4(GAN):c.1583G>T (p.Ser528Ile) rs1904284730
NM_022166.4(XYLT1):c.1429C>T (p.Arg477Cys) rs1180844430
NM_030787.4(CFHR5):c.485_486dup (p.Glu163fs) rs565457964
NM_052813.5(CARD9):c.1434+1G>C rs141992399
NM_133433.4(NIPBL):c.507G>T (p.Gln169His) rs2149607854
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg) rs150376715
NM_198253.3(TERT):c.2303A>T (p.Asp768Val) rs1579564948
NM_199437.2(PRDM10):c.2018G>A (p.Cys673Tyr) rs1319176059
NM_201384.3(PLEC):c.5968G>A (p.Val1990Met) rs201588551
NM_203447.4(DOCK8):c.1798-4A>G rs774596616

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