ClinVar Miner

List of variants reported as pathogenic for neurocristopathy by OMIM

Included ClinVar conditions (167):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 292
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HGVS dbSNP gnomAD frequency
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val) rs6339 0.03698
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) rs6336 0.03696
NM_001379200.1(TBX1):c.955G>A (p.Gly319Ser) rs41298838 0.00148
NM_003640.5(ELP1):c.2204+6T>C rs111033171 0.00051
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_015450.3(POT1):c.670G>A (p.Asp224Asn) rs202187871 0.00012
NM_020975.6(RET):c.1942G>A (p.Val648Ile) rs77711105 0.00007
NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys) rs104894387 0.00003
NM_001933.5(DLST):c.1121G>A (p.Gly374Glu) rs1270341616 0.00003
NM_003000.3(SDHB):c.418G>T (p.Val140Phe) rs267607032 0.00003
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter) rs74315369 0.00003
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter) rs781764920 0.00003
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_004064.5(CDKN1B):c.206C>T (p.Pro69Leu) rs777354267 0.00002
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp) rs387906780 0.00002
NM_015450.3(POT1):c.1164-1G>A rs866612394 0.00002
NM_001042492.3(NF1):c.1260+1G>A rs267606603 0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600 0.00001
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter) rs397514641 0.00001
NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter) rs104894267 0.00001
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237 0.00001
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) rs74315366 0.00001
NM_003000.3(SDHB):c.423+1G>A rs398122805 0.00001
NM_003000.3(SDHB):c.689G>A (p.Arg230His) rs587782604 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NM_003001.5(SDHC):c.405+1G>T rs587776653 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) rs80338845 0.00001
NM_003924.4(PHOX2B):c.785G>T (p.Gly262Val) rs768420488 0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_015450.3(POT1):c.233T>C (p.Ile78Thr) rs947005337 0.00001
NM_015450.3(POT1):c.280C>G (p.Gln94Glu) rs587777474 0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352 0.00001
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356 0.00001
NC_000001.10:g.17375249_17390927del15679
NC_000001.10:g.17376556_17396932del20377
NC_000004.12:g.(?_54229292)_(54740716_)del
NC_000011.10:g.64804807_64804818del rs760199250
NC_000011.9:g.(?_111957571)_(111966518_?)del
NC_000017.11:g.(?_31094927)_(31377677_?)del
NC_000023.10:g.(68059108_68059111)_(68067499_68067502)del
NF1, 1-BP DEL, 4071C
NG_007009.1:g.138884_149300del
NG_008887.1:g.(6109_14537)_(16741_?)del
NG_009018.1:g.246621_246622insN[320]
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys) rs121913479
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000222.3(KIT):c.1681dup (p.Glu561fs) rs794726673
NM_000222.3(KIT):c.1747G>A (p.Glu583Lys) rs121913680
NM_000222.3(KIT):c.1751T>G (p.Phe584Cys) rs28933371
NM_000222.3(KIT):c.1752T>G (p.Phe584Leu) rs794726671
NM_000222.3(KIT):c.1879+1G>A rs794726675
NM_000222.3(KIT):c.1925_1926del (p.Lys642fs) rs794726672
NM_000222.3(KIT):c.1990G>A (p.Gly664Arg) rs121913679
NM_000222.3(KIT):c.2539A>C (p.Thr847Pro) rs121913687
NM_000222.3(KIT):c.253del (p.Glu85fs) rs794726674
NM_000314.8(PTEN):c.55G>A (p.Asp19Asn) rs121909233
NM_000314.8(PTEN):c.633C>A (p.Cys211Ter) rs121909232
NM_000314.8(PTEN):c.649G>A (p.Val217Ile) rs121909234
NM_000325.6(PITX2):c.289_309dup (p.Gln103_Leu104insThrHisPheThrSerGlnGln)
NM_000325.6(PITX2):c.320T>A (p.Leu107Gln) rs104893857
NM_000325.6(PITX2):c.361A>C (p.Thr121Pro) rs104893858
NM_000325.6(PITX2):c.406G>C (p.Val136Leu) rs121909249
NM_000325.6(PITX2):c.411+5G>C rs1560590094
NM_000325.6(PITX2):c.412-11A>G rs1198152064
NM_000325.6(PITX2):c.421A>G (p.Lys141Glu) rs387906810
NM_000325.6(PITX2):c.431G>C (p.Arg144Pro) rs104893859
NM_000325.6(PITX2):c.558G>A (p.Trp186Ter) rs104893860
NM_000455.5(STK11):c.145T>G (p.Tyr49Asp) rs137853080
NM_000455.5(STK11):c.403G>C (p.Gly135Arg) rs137853081
NM_000455.5(STK11):c.508C>T (p.Gln170Ter) rs121913323
NM_000455.5(STK11):c.580G>T (p.Asp194Tyr) rs121913315
NM_001035511.2(SDHC):c.*4656_*7660delinsGTCA
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro) rs137854563
NM_001042492.3(NF1):c.1523T>C (p.Leu508Pro) rs137854558
NM_001042492.3(NF1):c.1642-8A>G rs267606602
NM_001042492.3(NF1):c.2531T>G (p.Leu844Arg) rs137854566
NM_001042492.3(NF1):c.3104T>G (p.Met1035Arg) rs137854553
NM_001042492.3(NF1):c.3113+1G>A rs267606599
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_001042492.3(NF1):c.3728T>C (p.Leu1243Pro) rs137854564
NM_001042492.3(NF1):c.3784del (p.Ser1262fs) rs1567852567
NM_001042492.3(NF1):c.3827G>C (p.Arg1276Pro) rs137854556
NM_001042492.3(NF1):c.4021C>T (p.Gln1341Ter) rs137854559
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_001042492.3(NF1):c.4236A>T (p.Arg1412Ser) rs137854554
NM_001042492.3(NF1):c.4724+1G>C rs1555619056
NM_001042492.3(NF1):c.5186_5190del (p.Ala1729fs) rs2151538841
NM_001042492.3(NF1):c.5469dup (p.Ile1824fs) rs267606605
NM_001042492.3(NF1):c.5511dup (p.Ser1838fs) rs267606596
NM_001042492.3(NF1):c.5528_5529insT (p.Lys1844fs) rs267606597
NM_001042492.3(NF1):c.5773G>T (p.Glu1925Ter) rs137854565
NM_001042492.3(NF1):c.5858T>C (p.Leu1953Pro) rs199474792
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) rs137854552
NM_001042492.3(NF1):c.5908A>T (p.Arg1970Ter) rs267606595
NM_001042492.3(NF1):c.6007-5A>G rs267606604
NM_001042492.3(NF1):c.6263T>C (p.Leu2088Pro) rs137854561
NM_001042492.3(NF1):c.6490C>A (p.Leu2164Met) rs137854551
NM_001042492.3(NF1):c.6574T>A (p.Tyr2192Asn) rs267606598
NM_001042492.3(NF1):c.7189+3A>C rs267606610
NM_001042492.3(NF1):c.8105dup (p.Tyr2702Ter) rs267606601
NM_001042492.3(NF1):c.945_946delinsAA (p.Leu316Met) rs267606609
NM_001122659.3(EDNRB):c.548C>G (p.Ala183Gly) rs104894388
NM_001122659.3(EDNRB):c.757C>T (p.Arg253Ter) rs104894390
NM_001135649.3(FOXI3):c.700T>G (p.Phe234Val)
NM_001135649.3(FOXI3):c.702C>A (p.Phe234Leu)
NM_001135649.3(FOXI3):c.706C>T (p.Arg236Trp)
NM_001135649.3(FOXI3):c.718C>T (p.Arg240Cys)
NM_001370259.2(MEN1):c.1024del (p.Ala342fs) rs1555164986
NM_001370259.2(MEN1):c.1062C>A (p.Cys354Ter) rs104894265
NM_001370259.2(MEN1):c.1087_1089del (p.Glu363del) rs869025185
NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn) rs104894264
NM_001370259.2(MEN1):c.1306T>A (p.Trp436Arg) rs104894259
NM_001370259.2(MEN1):c.1307G>A (p.Trp436Ter) rs104894260
NM_001370259.2(MEN1):c.1546del (p.Arg516fs) rs767319284
NM_001370259.2(MEN1):c.1546dup (p.Arg516fs) rs767319284
NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter) rs104894261
NM_001370259.2(MEN1):c.249_252del (p.Ile85fs) rs587776841
NM_001370259.2(MEN1):c.307del (p.Leu103fs) rs794728639
NM_001370259.2(MEN1):c.355AAG[1] (p.Lys120del) rs794728657
NM_001370259.2(MEN1):c.402del (p.Phe134fs) rs397515385
NM_001370259.2(MEN1):c.415C>G (p.His139Asp) rs104894263
NM_001370259.2(MEN1):c.551T>A (p.Val184Glu) rs104894262
NM_001370259.2(MEN1):c.593G>A (p.Trp198Ter) rs104894258
NM_001370259.2(MEN1):c.628_631del (p.Thr210fs) rs794728640
NM_001370259.2(MEN1):c.631_634del (p.Val211fs) rs1941851693
NM_001370259.2(MEN1):c.654+1G>A rs794728622
NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg) rs104894256
NM_001370259.2(MEN1):c.763G>A (p.Glu255Lys) rs104894268
NM_001370259.2(MEN1):c.770TGCAGC[3] (p.257LQ[3]) rs1555165485
NM_001370259.2(MEN1):c.778C>T (p.Gln260Ter) rs104894266
NM_001370259.2(MEN1):c.784-9G>A rs794728625
NM_001370259.2(MEN1):c.824+1G>A rs1060499976
NM_001453.3(FOXC1):c.245G>C (p.Ser82Thr) rs104893953
NM_001453.3(FOXC1):c.335T>C (p.Phe112Ser) rs104893951
NM_001453.3(FOXC1):c.358C>T (p.Gln120Ter) rs121909339
NM_001453.3(FOXC1):c.388C>T (p.Leu130Phe) rs121909338
NM_001453.3(FOXC1):c.67C>T (p.Gln23Ter) rs104893952
NM_002272.4(KRT4):c.1303G>A (p.Glu435Lys) rs62642055
NM_002272.4(KRT4):c.419_420insCAA (p.Gln140delinsHisLys) rs587776845
NM_002272.4(KRT4):c.432CAA[2] (p.Asn146del) rs587776844
NM_002524.5(NRAS):c.101C>T (p.Pro34Leu) rs397514553
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_003000.3(SDHB):c.(-151_-1)_(72+1_73-1)del
NM_003000.3(SDHB):c.136C>G (p.Arg46Gly) rs74315370
NM_003000.3(SDHB):c.201-4429_287-934del
NM_003000.3(SDHB):c.302G>A (p.Cys101Tyr) rs74315371
NM_003000.3(SDHB):c.395A>C (p.His132Pro) rs74315372
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_003000.3(SDHB):c.591del (p.Ser198fs) rs1060503757
NM_003000.3(SDHB):c.716_719del (p.Ser239fs) rs587781266
NM_003001.5(SDHC):c.3G>A (p.Met1Ile) rs587776652
NM_003002.4(SDHD):c.106C>T (p.Gln36Ter) rs104894303
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.4(SDHD):c.129G>A (p.Trp43Ter) rs104894308
NM_003002.4(SDHD):c.14G>A (p.Trp5Ter) rs104894310
NM_003002.4(SDHD):c.191_192del (p.Leu64fs) rs387906358
NM_003002.4(SDHD):c.1A>G (p.Met1Val) rs104894307
NM_003002.4(SDHD):c.278_280del (p.Tyr93del) rs121908983
NM_003002.4(SDHD):c.305A>T (p.His102Leu) rs104894302
NM_003002.4(SDHD):c.337_338insT (p.Asp113fs) rs587776645
NM_003002.4(SDHD):c.337_340del (p.Asp113fs) rs587776648
NM_003002.4(SDHD):c.33C>A (p.Cys11Ter) rs104894309
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys) rs104894304
NM_003002.4(SDHD):c.3G>C (p.Met1Ile) rs80338842
NM_003002.4(SDHD):c.416T>C (p.Leu139Pro) rs80338847
NM_003002.4(SDHD):c.443del (p.Gly148fs) rs587776646
NM_003002.4(SDHD):c.463del (p.Met155fs) rs587776647
NM_003002.4(SDHD):c.52+2T>G rs587776644
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter) rs104894306
NM_003002.4(SDHD):c.94_95del (p.Ala33fs) rs397514034
NM_003002.4(SDHD):c.95C>A (p.Ser32Ter) rs104894305
NM_003562.5(SLC25A11):c.107_108del (p.Thr36fs) rs1374026152
NM_003562.5(SLC25A11):c.421G>A (p.Glu141Lys) rs1567651815
NM_003562.5(SLC25A11):c.439A>G (p.Met147Val) rs1203876038
NM_003562.5(SLC25A11):c.708C>T (p.Ala236=) rs1567650874
NM_003562.5(SLC25A11):c.715C>A (p.Pro239Thr) rs1567650859
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) rs137853022
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu) rs28939712
NM_003924.4(PHOX2B):c.234C>G (p.Tyr78Ter) rs73810366
NM_003924.4(PHOX2B):c.422G>A (p.Arg141Gln) rs1733941453
NM_003924.4(PHOX2B):c.446G>T (p.Arg149Leu) rs1733899167
NM_003924.4(PHOX2B):c.618dup (p.Ser207fs) rs587776626
NM_003924.4(PHOX2B):c.722_759del (p.Ala241fs) rs1733878065
NM_004064.5(CDKN1B):c.-31AG[1] rs774454456
NM_004064.5(CDKN1B):c.-454_-451del rs786201010
NM_004064.5(CDKN1B):c.227G>A (p.Trp76Ter) rs121917832
NM_004064.5(CDKN1B):c.374_375del (p.Asn124_Ser125insTer) rs786201011
NM_004064.5(CDKN1B):c.59_77dup (p.Ser27fs) rs786201007
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004429.5(EFNB1):c.109T>G (p.Trp37Gly) rs104894802
NM_004429.5(EFNB1):c.110G>A (p.Trp37Ter) rs104894803
NM_004429.5(EFNB1):c.161C>T (p.Pro54Leu) rs104894801
NM_004429.5(EFNB1):c.196C>T (p.Arg66Ter) rs104894804
NM_004429.5(EFNB1):c.332C>T (p.Thr111Ile) rs104894796
NM_004429.5(EFNB1):c.451G>A (p.Gly151Ser) rs28936069
NM_004429.5(EFNB1):c.452G>T (p.Gly151Val) rs28936070
NM_004429.5(EFNB1):c.472A>G (p.Met158Val) rs28936071
NM_004429.5(EFNB1):c.474G>T (p.Met158Ile) rs28935170
NM_004429.5(EFNB1):c.496C>T (p.Gln166Ter) rs587777109
NM_005343.4(HRAS):c.182A>G (p.Gln61Arg) rs121913233
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>T (p.Gly12Val) rs104894230
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly) rs121913274
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_006842.3(SF3B2):c.1780-2del rs2135050433
NM_006842.3(SF3B2):c.1912C>T (p.Arg638Ter) rs2135051009
NM_006842.3(SF3B2):c.1A>T (p.Met1Leu) rs2135031513
NM_006842.3(SF3B2):c.2480dup (p.Leu828fs) rs2134479545
NM_006941.4(SOX10):c.1077_1078del (p.Glu359fs) rs397515367
NM_006941.4(SOX10):c.1129C>T (p.Gln377Ter) rs74315520
NM_006941.4(SOX10):c.249C>G (p.Tyr83Ter) rs73415876
NM_006941.4(SOX10):c.470C>T (p.Ala157Val) rs121909117
NM_006941.4(SOX10):c.482_483insGCTCCT (p.Arg161_Met162insLeuLeu) rs397515366
NM_006941.4(SOX10):c.565G>T (p.Glu189Ter) rs74315514
NM_006941.4(SOX10):c.621C>G (p.Tyr207Ter) rs281797260
NM_006941.4(SOX10):c.698-740_1085delinsCCT
NM_015450.3(POT1):c.1348G>T (p.Glu450Ter) rs797045169
NM_015450.3(POT1):c.1687-1G>A rs587777473
NM_015450.3(POT1):c.1851_1852del (p.Asp617fs) rs758673417
NM_015450.3(POT1):c.1869G>C (p.Gln623His) rs587777478
NM_015450.3(POT1):c.266A>G (p.Tyr89Cys) rs587777472
NM_015450.3(POT1):c.283G>T (p.Gly95Cys) rs797045168
NM_015450.3(POT1):c.410G>A (p.Arg137His) rs587777475
NM_015450.3(POT1):c.809G>A (p.Ser270Asn) rs587777477
NM_015450.3(POT1):c.818G>A (p.Arg273Gln) rs587777476
NM_015450.3(POT1):c.818G>T (p.Arg273Leu) rs587777476
NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter) rs104894903
NM_015922.3(NSDHL):c.314C>T (p.Ala105Val) rs104894909
NM_015922.3(NSDHL):c.451G>T (p.Glu151Ter) rs104894905
NM_015922.3(NSDHL):c.544G>C (p.Ala182Pro) rs104894904
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser) rs104894901
NM_015922.3(NSDHL):c.628C>T (p.Gln210Ter) rs104894902
NM_017780.4(CHD7):c.2442+5G>C rs387906271
NM_017780.4(CHD7):c.2501C>T (p.Ser834Phe) rs121434344
NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val) rs121434338
NM_017780.4(CHD7):c.3770T>G (p.Leu1257Arg) rs121434339
NM_017780.4(CHD7):c.3811G>T (p.Glu1271Ter) rs121434342
NM_017780.4(CHD7):c.4795C>T (p.Gln1599Ter) rs267606724
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.5418C>G (p.Tyr1806Ter) rs121434340
NM_017780.4(CHD7):c.5752dup (p.Thr1918fs) rs786200873
NM_017780.4(CHD7):c.6322G>A (p.Gly2108Arg) rs121434343
NM_017780.4(CHD7):c.6955C>A (p.Arg2319Ser) rs121434341
NM_017780.4(CHD7):c.6995G>A (p.Trp2332Ter) rs794727569
NM_017780.4(CHD7):c.8682_8683insT (p.Leu2895fs) rs1563674576
NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg) rs113560320
NM_020975.4(RET):c.[1896G>C;1897C>G;1900T>C]
NM_020975.4(RET):c.[2410G>A;2711C>G]
NM_020975.6(RET):c.1586_1594dup (p.Cys531_Gly532insGluGluCys) rs377767434
NM_020975.6(RET):c.1597G>T (p.Gly533Cys) rs75873440
NM_020975.6(RET):c.1825T>C (p.Cys609Arg) rs77558292
NM_020975.6(RET):c.1833C>G (p.Cys611Trp) rs80069458
NM_020975.6(RET):c.1852T>C (p.Cys618Arg) rs76262710
NM_020975.6(RET):c.1852T>G (p.Cys618Gly) rs76262710
NM_020975.6(RET):c.1853G>C (p.Cys618Ser) rs79781594
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) rs77316810
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) rs77503355
NM_020975.6(RET):c.1859G>C (p.Cys620Ser) rs77503355
NM_020975.6(RET):c.1859G>T (p.Cys620Phe) rs77503355
NM_020975.6(RET):c.1900T>G (p.Cys634Gly) rs75076352
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.6(RET):c.1901G>C (p.Cys634Ser) rs75996173
NM_020975.6(RET):c.1901G>T (p.Cys634Phe) rs75996173
NM_020975.6(RET):c.1902C>G (p.Cys634Trp) rs77709286
NM_020975.6(RET):c.1919C>G (p.Ala640Gly) rs78935588
NM_020975.6(RET):c.2304G>C (p.Glu768Asp) rs78014899
NM_020975.6(RET):c.2370G>C (p.Leu790Phe) rs75030001
NM_020975.6(RET):c.2410G>T (p.Val804Leu) rs79658334
NM_020975.6(RET):c.2735G>C (p.Arg912Pro) rs78347871
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_033116.4(NEK9):c.1817T>C (p.Ile573Thr) rs1555352529
NM_033116.4(NEK9):c.[1715G>T;1731+1G>T]
NM_033116.6(NEK9):c.500T>C (p.Ile167Thr) rs879253775
NM_153490.3(KRT13):c.332T>C (p.Leu111Pro) rs59897026
NM_153490.3(KRT13):c.356T>C (p.Leu119Pro) rs60440396
NM_207034.3(EDN3):c.262_263delinsT (p.Ala88fs) rs1568823517
NM_207034.3(EDN3):c.277C>G (p.Arg93Gly) rs267606779
NM_207034.3(EDN3):c.335A>G (p.His112Arg) rs267606778
NM_207034.3(EDN3):c.476G>T (p.Cys159Phe) rs74315384
NM_207034.3(EDN3):c.507C>A (p.Cys169Ter) rs74315385
NP_003915.2:p.Ala260[(5_9)]

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