ClinVar Miner

List of variants reported as likely pathogenic by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 300
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00049
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797 0.00017
NM_004646.4(NPHS1):c.559G>A (p.Val187Met) rs199646884 0.00016
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys) rs142073798 0.00014
NM_004369.4(COL6A3):c.6422C>A (p.Pro2141His) rs369169235 0.00010
NM_002226.5(JAG2):c.2515G>A (p.Gly839Arg) rs781734780 0.00006
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser) rs184730597 0.00004
NM_000391.4(TPP1):c.889C>T (p.Arg297Trp) rs553122824 0.00004
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro) rs764262446 0.00004
NM_001999.4(FBN2):c.1526G>T (p.Arg509Leu) rs199587570 0.00003
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp) rs137853105 0.00003
NM_213599.3(ANO5):c.173G>A (p.Arg58Gln) rs749698519 0.00003
NM_000540.3(RYR1):c.1264G>A (p.Gly422Arg) rs757157750 0.00002
NM_001079802.2(FKTN):c.1325A>G (p.Asn442Ser) rs1429464723 0.00002
NM_002745.5(MAPK1):c.763A>G (p.Ile255Val) rs375334289 0.00002
NM_024408.4(NOTCH2):c.85C>T (p.Arg29Ter) rs1174406807 0.00002
NM_000032.5(ALAS2):c.514G>A (p.Ala172Thr) rs137852304 0.00001
NM_000083.3(CLCN1):c.774G>A (p.Glu258=) rs770605959 0.00001
NM_000090.4(COL3A1):c.2264C>A (p.Pro755Gln) rs1553508711 0.00001
NM_000512.5(GALNS):c.281G>A (p.Arg94His) rs727503946 0.00001
NM_000540.3(RYR1):c.6445G>A (p.Val2149Met) rs776830747 0.00001
NM_001009944.3(PKD1):c.9986C>T (p.Ser3329Phe) rs1203304646 0.00001
NM_001165963.4(SCN1A):c.2522C>T (p.Thr841Met) rs750901301 0.00001
NM_001382.4(DPAGT1):c.361C>T (p.Arg121Cys) rs746187785 0.00001
NM_001849.4(COL6A2):c.287A>G (p.Tyr96Cys) rs2078408746 0.00001
NM_005609.4(PYGM):c.107T>G (p.Leu36Arg) rs1394188143 0.00001
NM_031885.5(BBS2):c.98C>A (p.Ala33Asp) rs797045155 0.00001
NM_032317.3(DNAJC30):c.293A>C (p.Tyr98Ser) rs965912564 0.00001
NM_033116.6(NEK9):c.2101C>T (p.Arg701Trp) rs1402196530 0.00001
NM_033343.4(LHX4):c.250C>T (p.Arg84Cys) rs121912642 0.00001
NM_198239.2(CCN6):c.589G>C (p.Ala197Pro) rs1554313639 0.00001
GRCh37/hg19 11p11.2(chr11:47459526-47460482)
GRCh37/hg19 12p12.2-12.1(chr12:21007963-21392123)
GRCh37/hg19 16p13.2(chr16:8841965-8851663)
GRCh37/hg19 17q11.2(chr17:27834915-27870040)
GRCh37/hg19 17q21.32(chr17:44949883-46507482)
GRCh37/hg19 19q13.2(chr19:38987608-38993136)
GRCh37/hg19 1q21.3(chr1:154247426-154248177)
GRCh37/hg19 2q23.1(chr2:149220152-149633312)
GRCh37/hg19 3p25.3(chr3:9482141-9490314)
GRCh37/hg19 5q31.1(chr5:133956623-133959709)
GRCh37/hg19 7p22.3(chr7:2606751-2641098)
GRCh37/hg19 9p13.3(chr9:36227245-36227455)
GRCh37/hg19 Xp21.1(chrX:31950355-32305635)
GRCh37/hg19 Xq22.3(chrX:105066840-106486528)
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del) rs875989857
NM_000020.3(ACVRL1):c.1198G>C (p.Ala400Pro) rs2139076978
NM_000033.4(ABCD1):c.22dup (p.Arg8fs)
NM_000039.3(APOA1):c.126C>G (p.Tyr42Ter)
NM_000059.4(BRCA2):c.316G>A (p.Gly106Arg) rs786201916
NM_000069.3(CACNA1S):c.1707C>G (p.Phe569Leu)
NM_000069.3(CACNA1S):c.2627T>A (p.Val876Glu) rs267606698
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000083.3(CLCN1):c.1984C>T (p.Gln662Ter)
NM_000083.3(CLCN1):c.1997_1998del (p.Cys666fs)
NM_000083.3(CLCN1):c.2001dup (p.Glu668Ter)
NM_000083.3(CLCN1):c.562+1G>C rs2116837885
NM_000083.3(CLCN1):c.603dup (p.Val202fs)
NM_000083.3(CLCN1):c.774+3A>C
NM_000083.3(CLCN1):c.871G>T (p.Glu291Ter)
NM_000083.3(CLCN1):c.891del (p.Phe297fs)
NM_000090.4(COL3A1):c.898-1G>A
NM_000090.4(COL3A1):c.992A>T (p.Gln331Leu)
NM_000091.5(COL4A3):c.1087G>T (p.Gly363Trp)
NM_000095.3(COMP):c.1228T>G (p.Cys410Gly) rs2145901302
NM_000138.5(FBN1):c.1669T>C (p.Cys557Arg) rs2141323348
NM_000138.5(FBN1):c.1891A>C (p.Thr631Pro) rs2043697314
NM_000138.5(FBN1):c.3115T>C (p.Cys1039Arg)
NM_000138.5(FBN1):c.5060G>T (p.Cys1687Phe)
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del) rs1555396789
NM_000138.5(FBN1):c.6314-3del rs2141240967
NM_000138.5(FBN1):c.6380A>G (p.Asp2127Gly) rs2141240523
NM_000138.5(FBN1):c.7454A>G (p.Asp2485Gly) rs1085307921
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000168.6(GLI3):c.793del (p.Ala265fs) rs2128741200
NM_000218.3(KCNQ1):c.1459G>T (p.Glu487Ter)
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000252.3(MTM1):c.1372T>G (p.Phe458Val)
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000257.4(MYH7):c.514C>G (p.Gln172Glu) rs2138683978
NM_000276.4(OCRL):c.850G>A (p.Glu284Lys) rs2124404743
NM_000284.4(PDHA1):c.749C>T (p.Pro250Leu) rs1602227679
NM_000298.6(PKLR):c.1373G>A (p.Gly458Asp) rs755522396
NM_000298.6(PKLR):c.224T>C (p.Leu75Pro) rs2148218886
NM_000335.5(SCN5A):c.3944G>T (p.Arg1315Leu) rs765907469
NM_000338.3(SLC12A1):c.572T>A (p.Ile191Asn)
NM_000338.3(SLC12A1):c.595C>G (p.Arg199Gly)
NM_000350.3(ABCA4):c.3812A>G (p.Glu1271Gly) rs1660360744
NM_000358.3(TGFBI):c.1517_1518insCAAGGG (p.Met506delinsIleLysGly)
NM_000368.5(TSC1):c.134T>C (p.Leu45Ser) rs1554820662
NM_000381.4(MID1):c.1688dup (p.Lys564fs)
NM_000381.4(MID1):c.1924A>C (p.Thr642Pro) rs2147252300
NM_000383.4(AIRE):c.916G>A (p.Gly306Arg) rs754932526
NM_000388.4(CASR):c.2506G>T (p.Val836Leu) rs2107650629
NM_000390.4(CHM):c.453dup (p.Glu152Ter)
NM_000391.4(TPP1):c.1012C>T (p.Gln338Ter)
NM_000426.4(LAMA2):c.7521dup (p.Ile2508fs) rs1583845651
NM_000435.3(NOTCH3):c.458G>A (p.Arg153His)
NM_000444.6(PHEX):c.1474del (p.Leu492fs)
NM_000459.5(TEK):c.2689T>A (p.Tyr897Asn) rs2131227936
NM_000459.5(TEK):c.2752C>T (p.Arg918Cys) rs1825683100
NM_000501.4(ELN):c.2151del (p.Ala718fs) rs2132828209
NM_000507.4(FBP1):c.170+4A>G
NM_000516.7(GNAS):c.364C>G (p.Pro122Ala) rs2146183586
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000533.5(PLP1):c.442C>T (p.His148Tyr) rs2147764634
NM_000540.3(RYR1):c.128A>C (p.Asn43Thr)
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.2505del (p.Pro836fs) rs797045932
NM_000702.4(ATP1A2):c.2192T>C (p.Met731Thr) rs28933400
NM_000785.4(CYP27B1):c.335C>T (p.Pro112Leu)
NM_000937.5(POLR2A):c.778G>A (p.Val260Met)
NM_001009944.3(PKD1):c.1132C>T (p.Gln378Ter)
NM_001009944.3(PKD1):c.12215_12216del (p.Ser4072fs)
NM_001009944.3(PKD1):c.7638dup (p.Phe2547fs)
NM_001018005.2(TPM1):c.343G>A (p.Glu115Lys) rs727504313
NM_001024630.4(RUNX2):c.173_227del (p.Gln58fs)
NM_001031725.6(DDX59):c.1597-6T>G rs546799731
NM_001032221.6(STXBP1):c.1651C>A (p.Arg551Ser) rs796053373
NM_001032221.6(STXBP1):c.993del (p.Lys332fs) rs2131497300
NM_001033855.3(DCLRE1C):c.413G>C (p.Arg138Thr)
NM_001040142.2(SCN2A):c.2986G>A (p.Asp996Asn) rs2105336868
NM_001042492.3(NF1):c.1426A>G (p.Lys476Glu) rs2066785949
NM_001042492.3(NF1):c.3063_3065del (p.Met1023del) rs2151431646
NM_001042492.3(NF1):c.3142T>C (p.Trp1048Arg) rs1555614634
NM_001042492.3(NF1):c.3236T>C (p.Leu1079Pro) rs2151433731
NM_001042492.3(NF1):c.3302A>T (p.Gln1101Leu) rs2151433891
NM_001042492.3(NF1):c.4235_4240del (p.Arg1412_Phe1413del) rs2151461951
NM_001042492.3(NF1):c.4608_4611delinsC (p.Asp1537del) rs2151466254
NM_001042492.3(NF1):c.4619C>A (p.Ala1540Glu) rs2151466279
NM_001042492.3(NF1):c.4836G>C (p.Arg1612Ser) rs1555533268
NM_001042492.3(NF1):c.5398A>C (p.Thr1800Pro) rs2151541217
NM_001042492.3(NF1):c.5534T>C (p.Ile1845Thr) rs1060500339
NM_001042492.3(NF1):c.5652T>G (p.Phe1884Leu) rs1567613616
NM_001042492.3(NF1):c.579_581del (p.Leu194del) rs2143708173
NM_001042492.3(NF1):c.6022G>C (p.Asp2008His) rs786201924
NM_001042492.3(NF1):c.6052A>C (p.Ser2018Arg) rs2151553286
NM_001042492.3(NF1):c.7000G>C (p.Gly2334Arg) rs1597848100
NM_001042492.3(NF1):c.968C>A (p.Ala323Asp) rs2066507556
NM_001079802.2(FKTN):c.1215_1226del (p.Asp406_Val409del) rs1554766855
NM_001083962.2(TCF4):c.1146+2T>C
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001114753.3(ENG):c.296T>A (p.Leu99His) rs2131895111
NM_001126108.2(SLC12A3):c.2585G>C (p.Arg862Pro) rs267607051
NM_001134232.2(TMEM106B):c.754G>A (p.Asp252Asn) rs1554310600
NM_001134407.3(GRIN2A):c.1273del (p.Pro424_Leu425insTer) rs879253760
NM_001134673.4(NFIA):c.925G>T (p.Gly309Ter)
NM_001139.3(ALOX12B):c.805C>T (p.Leu269Phe) rs532842455
NM_001159699.2(FHL1):c.575dup (p.Tyr192Ter)
NM_001165963.4(SCN1A):c.1130_1131delinsAC (p.Arg377His)
NM_001165963.4(SCN1A):c.5462A>C (p.Gln1821Pro) rs1689207347
NM_001184880.2(PCDH19):c.95A>T (p.Glu32Val) rs2147542709
NM_001243177.4(ALDOA):c.1001C>T (p.Ala334Val) rs2151019295
NM_001243177.4(ALDOA):c.1178G>A (p.Cys393Tyr) rs2151019809
NM_001256071.3(RNF213):c.12059G>T (p.Cys4020Phe) rs1599150380
NM_001267550.2(TTN):c.84984del (p.Phe28328fs)
NM_001276345.2(TNNT2):c.375del (p.Glu126fs) rs560019679
NM_001330260.2(SCN8A):c.4219C>T (p.Leu1407Phe) rs2138904598
NM_001355436.2(SPTB):c.5953C>T (p.Gln1985Ter)
NM_001369268.1(ACAN):c.905T>C (p.Leu302Pro)
NM_001372044.2(SHANK3):c.2914_2948del (p.Asp972fs)
NM_001374504.1(TMPRSS6):c.1547G>A (p.Cys516Tyr) rs2146057214
NM_001376.5(DYNC1H1):c.6943T>G (p.Leu2315Val)
NM_001378452.1(ITPR1):c.748T>C (p.Phe250Leu) rs2125159710
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg) rs752281590
NM_001379659.1(ZNF142):c.982_983del (p.Lys328fs) rs2106250143
NM_001382.4(DPAGT1):c.1097T>C (p.Leu366Ser) rs2134898234
NM_001399.5(EDA):c.130del (p.Leu44fs)
NM_001555.5(IGSF1):c.2407dup (p.His803fs) rs1603404297
NM_001693.4(ATP6V1B2):c.124C>T (p.Gln42Ter)
NM_001844.5(COL2A1):c.1058_1068dup (p.Gly357fs) rs2136590109
NM_001844.5(COL2A1):c.2581G>C (p.Gly861Arg)
NM_001844.5(COL2A1):c.3136C>T (p.Pro1046Ser) rs751205887
NM_001845.6(COL4A1):c.2185G>C (p.Gly729Arg) rs1594555106
NM_001848.3(COL6A1):c.475G>A (p.Gly159Arg) rs1471465037
NM_001848.3(COL6A1):c.887G>T (p.Gly296Val) rs1603590649
NM_001849.4(COL6A2):c.1868C>T (p.Ser623Phe) rs2123661865
NM_001854.4(COL11A1):c.3600+2T>C
NM_001999.4(FBN2):c.3778T>C (p.Ser1260Pro)
NM_002016.2(FLG):c.11048del (p.Gly3683fs) rs1365780833
NM_002241.5(KCNJ10):c.400C>A (p.Arg134Ser) rs1648622680
NM_002317.7(LOX):c.1024_1025dup (p.Gln345fs)
NM_002474.3(MYH11):c.5295+1G>C
NM_002755.4(MAP2K1):c.265C>A (p.Pro89Thr) rs1265809314
NM_003000.3(SDHB):c.412G>T (p.Asp138Tyr) rs786203529
NM_003126.4(SPTA1):c.2335_2352delinsGCTCTCA (p.Lys779fs)
NM_003482.4(KMT2D):c.16521G>C (p.Glu5507Asp) rs2137703473
NM_003491.4(NAA10):c.115C>A (p.Pro39Thr) rs1603290816
NM_003722.5(TP63):c.881A>G (p.Gln294Arg) rs2108801985
NM_003995.4(NPR2):c.2065C>T (p.Pro689Ser) rs2132090317
NM_004004.6(GJB2):c.524C>G (p.Pro175Arg) rs2137307322
NM_004006.3(DMD):c.10087-2A>G rs1569420861
NM_004006.3(DMD):c.10232del (p.Thr3411fs)
NM_004006.3(DMD):c.10234del (p.Thr3411_Leu3412insTer)
NM_004006.3(DMD):c.1399dup (p.Thr467fs)
NM_004006.3(DMD):c.1704+2T>C
NM_004006.3(DMD):c.181A>T (p.Lys61Ter)
NM_004006.3(DMD):c.2278_2292+101delinsTGATAAA
NM_004006.3(DMD):c.247dup (p.Val83fs)
NM_004006.3(DMD):c.2566C>T (p.Gln856Ter)
NM_004006.3(DMD):c.2656_2668del (p.Pro885_Gln886insTer)
NM_004006.3(DMD):c.3149del (p.Leu1050fs)
NM_004006.3(DMD):c.3229_3233del (p.Ala1077fs)
NM_004006.3(DMD):c.3337_3338insTGGG (p.Gln1113fs)
NM_004006.3(DMD):c.3400del (p.Asn1135fs)
NM_004006.3(DMD):c.4069dup (p.Glu1357fs)
NM_004006.3(DMD):c.4198A>T (p.Lys1400Ter)
NM_004006.3(DMD):c.4519-5C>G rs2147560185
NM_004006.3(DMD):c.479_490delinsTTGATGGC (p.Thr160fs)
NM_004006.3(DMD):c.4961del (p.Ser1654fs)
NM_004006.3(DMD):c.5449-2A>T
NM_004006.3(DMD):c.6057del (p.Asn2019fs)
NM_004006.3(DMD):c.6147del (p.Gly2050fs)
NM_004006.3(DMD):c.6171del (p.Ser2057fs)
NM_004006.3(DMD):c.7000G>T (p.Glu2334Ter)
NM_004006.3(DMD):c.71G>A (p.Trp24Ter) rs2147755143
NM_004006.3(DMD):c.7327_7328del (p.Thr2443fs)
NM_004006.3(DMD):c.7819A>T (p.Lys2607Ter)
NM_004006.3(DMD):c.847del (p.Ala283fs)
NM_004006.3(DMD):c.848dup (p.Gln284fs)
NM_004006.3(DMD):c.8851_8861del (p.Arg2951fs)
NM_004006.3(DMD):c.8944del (p.Arg2982fs)
NM_004006.3(DMD):c.9163+2T>A
NM_004006.3(DMD):c.9224+2T>A
NM_004006.3(DMD):c.9361+1G>T
NM_004006.3(DMD):c.9442_9457del (p.Leu3148fs)
NM_004006.3(DMD):c.979del (p.Asp327fs)
NM_004006.3(DMD):c.9974+1G>C
NM_004380.3(CREBBP):c.4067_4071del (p.Glu1356fs)
NM_004530.6(MMP2):c.1456TTC[2] (p.Phe488del) rs745677721
NM_004530.6(MMP2):c.529G>A (p.Glu177Lys) rs1962181218
NM_004752.4(GCM2):c.1A>G (p.Met1Val) rs2113257238
NM_004959.5(NR5A1):c.578T>A (p.Ile193Asn) rs2131286907
NM_004982.4(KCNJ8):c.712G>A (p.Gly238Arg)
NM_004985.5(KRAS):c.451-5642A>T rs1592798693
NM_005199.5(CHRNG):c.895T>A (p.Ser299Thr) rs2106221995
NM_005260.7(GDF9):c.1364A>C (p.Ter455Ser) rs2150042519
NM_005324.5(H3-3B):c.35C>T (p.Thr12Ile)
NM_005430.4(WNT1):c.617G>A (p.Gly206Asp) rs2137624585
NM_005458.8(GABBR2):c.2119G>A (p.Ala707Thr) rs1554689313
NM_005465.7(AKT3):c.803T>C (p.Val268Ala) rs1674673024
NM_005629.4(SLC6A8):c.229C>A (p.Arg77Ser)
NM_005629.4(SLC6A8):c.527_529del (p.Trp176_Asn177delinsTyr)
NM_005859.5(PURA):c.227A>C (p.Asp76Ala)
NM_006280.3(SSR4):c.235C>T (p.Arg79Ter)
NM_006734.4(HIVEP2):c.3490C>T (p.Gln1164Ter)
NM_006912.6(RIT1):c.116T>G (p.Met39Arg) rs2102590945
NM_006915.3(RP2):c.969+3A>C rs2147089334
NM_007317.3(KIF22):c.752T>C (p.Leu251Pro) rs2142373200
NM_012082.4(ZFPM2):c.192T>G (p.Cys64Trp) rs1404513559
NM_012330.4(KAT6B):c.1A>G (p.Met1Val)
NM_014112.5(TRPS1):c.2096+1G>A
NM_014363.6(SACS):c.1814C>T (p.Pro605Leu) rs2137718533
NM_014946.4(SPAST):c.1607_1609del (p.Gln536del) rs2148759471
NM_015001.3(SPEN):c.4558C>T (p.Gln1520Ter)
NM_015295.3(SMCHD1):c.2008G>T (p.Asp670Tyr) rs2143241656
NM_017534.6(MYH2):c.5651A>C (p.Tyr1884Ser)
NM_018646.6(TRPV6):c.715_724del (p.Val239fs)
NM_020374.4(C12orf4):c.1168_1169delinsC (p.Gly390fs)
NM_020686.6:c.(168+1_169-1)_(366+1_367-1)del
NM_020778.5(ALPK3):c.1501del (p.Ser501fs) rs2141557313
NM_020822.3(KCNT1):c.1016T>G (p.Leu339Arg) rs1831789627
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.1424_1485dup (p.Asn496delinsProGlyProTer) rs2131497737
NM_020829.4(RIC1):c.2333C>T (p.Pro778Leu)
NM_020988.3(GNAO1):c.844T>C (p.Ser282Pro) rs2143699753
NM_021224.6(ZNF462):c.6829C>T (p.Arg2277Ter)
NM_021971.4(GMPPB):c.827C>T (p.Pro276Leu) rs766298888
NM_022455.5(NSD1):c.5858G>T (p.Gly1953Val)
NM_022455.5(NSD1):c.6542C>T (p.Ser2181Phe) rs2127279367
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val) rs34946266
NM_024753.5(TTC21B):c.992G>A (p.Gly331Glu)
NM_031157.4(HNRNPA1):c.1018C>G (p.Pro340Ala) rs1592173638
NM_032193.4(RNASEH2C):c.412C>T (p.Pro138Ser) rs77834781
NM_032856.5(WDR73):c.525_565dup (p.Asp189delinsValThrValArgSerTer) rs2141837067
NM_033116.6(NEK9):c.219G>C (p.Glu73Asp) rs2139820216
NM_033380.3(COL4A5):c.219_226del (p.Arg74fs)
NM_033380.3(COL4A5):c.228A>T (p.Gln76His) rs2147722497
NM_033629.6(TREX1):c.137dup (p.Ser46fs) rs2107255865
NM_130839.5(UBE3A):c.1704del (p.Glu570fs)
NM_133433.4(NIPBL):c.8384T>C (p.Leu2795Pro) rs2149761303
NM_133443.4(GPT2):c.1441G>A (p.Gly481Ser) rs745565332
NM_133443.4(GPT2):c.333+2T>G
NM_133443.4(GPT2):c.924_925del (p.Pro309fs)
NM_138295.5(PKD1L1):c.4938T>G (p.Tyr1646Ter) rs2128741114
NM_138694.4(PKHD1):c.8785_8786insCTT (p.His2929delinsProTyr)
NM_139058.3(ARX):c.1A>T (p.Met1Leu)
NM_144687.4(NLRP12):c.2072+1G>C rs766603266
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) rs121912496
NM_172107.4(KCNQ2):c.1080G>T (p.Trp360Cys) rs1600732174
NM_172107.4(KCNQ2):c.1721G>A (p.Gly574Asp) rs796052654
NM_181458.4(PAX3):c.688C>A (p.Gln230Lys)
NM_181741.4(ORC4):c.956A>G (p.His319Arg) rs2105259429
NM_207037.2(TCF12):c.222+1G>A
NM_213674.1(TPM2):c.773-2A>C rs2131843731

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