ClinVar Miner

List of variants reported as likely pathogenic by Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

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ClinVar version:
Total variants: 87
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HGVS dbSNP
NC_000011.9:g.(2683312_2790073)_(2799268_2868996)dup
NM_000021.4(PSEN1):c.257T>G (p.Phe86Cys)
NM_000068.4(CACNA1A):c.2070_2071delinsGGAG (p.Phe690fs) rs1568514371
NM_000089.3(COL1A2):c.1235G>T (p.Gly412Val) rs1554396283
NM_000091.4(COL4A3):c.1381G>C (p.Gly461Arg) rs1135401954
NM_000091.4(COL4A3):c.3257G>A (p.Gly1086Glu)
NM_000217.3(KCNA1):c.1183G>T (p.Ala395Ser) rs1135401950
NM_000218.2(KCNQ1):c.321G>T (p.Gln107His) rs1554958092
NM_000219.6(KCNE1):c.166_180del (p.Phe56_Gly60del) rs1568836457
NM_000257.4(MYH7):c.2771A>G (p.Glu924Gly) rs1566530698
NM_000314.6(PTEN):c.866_867insGA (p.Val290Lysfs) rs1564568303
NM_000489.5(ATRX):c.7192C>T (p.Gln2398Ter) rs1569515457
NM_000492.3(CFTR):c.476T>C (p.Leu159Ser) rs397508727
NM_000540.2(RYR1):c.15047_15048del (p.Gln5016fs) rs1555806119
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) rs730880056
NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro) rs730880056
NM_001005463.3(EBF3):c.461_462delinsCT (p.Leu154Pro) rs1564927062
NM_001035.3(RYR2):c.11788G>C (p.Gly3930Arg)
NM_001035.3(RYR2):c.12550_12552del (p.Glu4184del) rs1558405887
NM_001035.3(RYR2):c.14079_14081del (p.Leu4694del)
NM_001040142.2(SCN2A):c.1563_1564del (p.Asp521fs) rs1553569739
NM_001040142.2(SCN2A):c.788C>A (p.Ala263Glu) rs387906686
NM_001077350.3(NPRL3):c.469G>T (p.Glu157Ter)
NM_001079668.3(NKX2-1):c.338_342del (p.Val113fs)
NM_001079846.1(CREBBP):c.1917del (p.Ile640fs) rs1555483716
NM_001085049.3(MRAS):c.67G>C (p.Gly23Arg) rs1560171992
NM_001099404.1(SCN5A):c.4137_4139CAA[1] (p.Asn1380del) rs794728922
NM_001101.5(ACTB):c.217C>T (p.His73Tyr) rs786205585
NM_001101.5(ACTB):c.527T>C (p.Leu176Pro) rs1554329331
NM_001111125.3(IQSEC2):c.1591C>T (p.Arg531Ter)
NM_001134363.3(RBM20):c.1016G>A (p.Trp339Ter) rs1554898987
NM_001184880.2(PCDH19):c.1682del (p.Pro561fs)
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu)
NM_001198950.3(MYO16):c.1477C>T (p.Pro493Ser) rs774060871
NM_001242897.2(DEPDC5):c.1277_1280del (p.Ala426fs) rs1568963062
NM_001242897.2(DEPDC5):c.2460_2469delinsGGACA (p.Asp820fs) rs1569083500
NM_001267550.2(TTN):c.40626dup (p.Pro13543fs) rs1553754743
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001
NM_001267550.2(TTN):c.48963_48966del (p.Ser16321fs) rs1553703310
NM_001267550.2(TTN):c.55541_55542del (p.Tyr18514fs)
NM_001267550.2(TTN):c.57300_57303dup (p.Ile19102Ter) rs1553659902
NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter) rs1553636324
NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter) rs1553603152
NM_001267550.2(TTN):c.84311_84312del (p.Ile28104fs) rs1553565316
NM_001267550.2(TTN):c.94371del (p.Glu31458fs) rs1553524807
NM_001292043.2(SETD5):c.1637C>G (p.Ser546Ter) rs1553625881
NM_001377.3(DYNC2H1):c.12831G>T (p.Arg4277Ser)
NM_001377.3(DYNC2H1):c.9820A>C (p.Ser3274Arg)
NM_001451.3(FOXF1):c.1140A>C (p.Ter380Cys) rs1567511932
NM_001743.6(CALM2):c.400G>A (p.Asp134Asn) rs398124650
NM_001844.5(COL2A1):c.609+4del rs1555168965
NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val) rs1553193910
NM_002585.3(PBX1):c.818G>A (p.Cys273Tyr) rs1558020021
NM_003413.4(ZIC3):c.764G>C (p.Trp255Ser) rs886041111
NM_003482.3(KMT2D):c.4214A>G (p.His1405Arg) rs1565809463
NM_004004.6(GJB2):c.172C>T (p.Pro58Ser) rs1064797090
NM_004281.3(BAG3):c.1418dup (p.Ala474fs)
NM_005027.4(PIK3R2):c.1056C>G (p.Phe352Leu) rs1568636630
NM_005121.3(MED13):c.6047C>T (p.Pro2016Leu) rs1567938478
NM_005859.5(PURA):c.605T>C (p.Leu202Pro) rs1561793336
NM_006343.3(MERTK):c.1296+5G>A rs1553454799
NM_006514.3(SCN10A):c.4201_4203del (p.Phe1401del) rs1559414131
NM_006920.6(SCN1A):c.1025C>A (p.Ala342Glu) rs794726797
NM_006920.6(SCN1A):c.4010T>C (p.Met1337Thr) rs1559128483
NM_016239.4(MYO15A):c.9061C>T (p.Arg3021Ter) rs1567658710
NM_018486.3(HDAC8):c.796G>C (p.Ala266Pro) rs1569317995
NM_020920.4(CHD8):c.3774del (p.Lys1258_Val1259insTer) rs1555314317
NM_021956.4(GRIK2):c.808C>T (p.Arg270Ter)
NM_052867.4(NALCN):c.3064A>G (p.Ile1022Val) rs1555381108
NM_130838.4(UBE3A):c.151G>T (p.Glu51Ter)
NM_133433.4(NIPBL):c.868G>A (p.Gly290Ser) rs1554014382
NM_144495.2(PQBP1):c.437_439AGC[1] (p.Gln147del)
NM_170707.4(LMNA):c.611T>G (p.Leu204Arg) rs1553265180
NM_172056.2(KCNH2):c.1238T>G (p.Leu413Arg) rs199472893
NM_172056.2(KCNH2):c.1525G>A (p.Asp509Asn) rs370637245
NM_172056.2(KCNH2):c.2053C>T (p.Arg685Cys) rs778135438
NM_172056.2(KCNH2):c.92T>A (p.Ile31Asn) rs199472833
NM_172107.4(KCNQ2):c.430C>G (p.Arg144Gly) rs1555873985
NM_172362.3(KCNH1):c.596A>G (p.Lys199Arg) rs1558570102
NM_181798.1(KCNQ1):c.1171C>G (p.Arg391Gly) rs17215500
NM_181798.1(KCNQ1):c.496C>T (p.Arg166Cys) rs199472737
NM_181798.1(KCNQ1):c.584C>A (p.Thr195Lys) rs199472755
NM_198056.2(SCN5A):c.1066G>T (p.Asp356Tyr)
NM_198056.2(SCN5A):c.2677C>T (p.Arg893Cys) rs199473171
NM_198056.2(SCN5A):c.4312C>T (p.Pro1438Ser) rs1559729142
NM_198056.2(SCN5A):c.4463C>A (p.Thr1488Lys)
NM_198056.2(SCN5A):c.5357T>C (p.Leu1786Pro)

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