ClinVar Miner

List of variants reported as uncertain significance for Hypertrophic cardiomyopathy 25; Primary familial hypertrophic cardiomyopathy

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Total variants: 139
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HGVS dbSNP gnomAD frequency
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) rs146906267 0.00051
NM_003673.4(TCAP):c.187C>T (p.Arg63Cys) rs758048577 0.00017
NM_003673.4(TCAP):c.337C>T (p.Leu113Phe) rs372312912 0.00014
NM_003673.4(TCAP):c.209G>A (p.Arg70Gln) rs552865793 0.00012
NM_003673.4(TCAP):c.223G>A (p.Gly75Ser) rs753744791 0.00010
NM_003673.4(TCAP):c.388C>T (p.Arg130Cys) rs374886575 0.00009
NM_003673.4(TCAP):c.448G>A (p.Gly150Ser) rs762850913 0.00009
NM_003673.4(TCAP):c.97C>T (p.Arg33Trp) rs145524909 0.00009
NM_003673.4(TCAP):c.226C>T (p.Arg76Cys) rs572836774 0.00006
NM_003673.4(TCAP):c.480G>A (p.Met160Ile) rs755395354 0.00006
NM_003673.4(TCAP):c.113G>T (p.Cys38Phe) rs375310569 0.00005
NM_003673.4(TCAP):c.460C>T (p.Arg154Cys) rs755539784 0.00004
NM_003673.4(TCAP):c.208C>T (p.Arg70Trp) rs775636212 0.00003
NM_003673.4(TCAP):c.259C>T (p.Arg87Trp) rs777518512 0.00003
NM_003673.4(TCAP):c.269C>T (p.Pro90Leu) rs727504427 0.00003
NM_003673.4(TCAP):c.317G>A (p.Arg106His) rs576098128 0.00003
NM_003673.4(TCAP):c.461G>A (p.Arg154His) rs780544264 0.00003
NM_003673.4(TCAP):c.70G>C (p.Glu24Gln) rs993261985 0.00003
NM_003673.4(TCAP):c.16C>A (p.Leu6Met) rs201664428 0.00002
NM_003673.4(TCAP):c.301G>A (p.Ala101Thr) rs727503455 0.00002
NM_003673.4(TCAP):c.378G>C (p.Gln126His) rs749685550 0.00002
NM_003673.4(TCAP):c.386A>G (p.Asp129Gly) rs1324156287 0.00002
NM_003673.4(TCAP):c.421C>G (p.Pro141Ala) rs45509691 0.00002
NM_003673.4(TCAP):c.497G>A (p.Arg166Lys) rs779217085 0.00002
NM_003673.4(TCAP):c.53G>A (p.Arg18Gln) rs45614536 0.00002
NM_003673.4(TCAP):c.110+10G>A rs1259726775 0.00001
NM_003673.4(TCAP):c.145G>A (p.Glu49Lys) rs45513698 0.00001
NM_003673.4(TCAP):c.170G>A (p.Cys57Tyr) rs754762491 0.00001
NM_003673.4(TCAP):c.171C>G (p.Cys57Trp) rs369447207 0.00001
NM_003673.4(TCAP):c.175G>A (p.Val59Met) rs1064796829 0.00001
NM_003673.4(TCAP):c.194C>T (p.Pro65Leu) rs2057250642 0.00001
NM_003673.4(TCAP):c.202A>T (p.Met68Leu) rs770133993 0.00001
NM_003673.4(TCAP):c.227G>A (p.Arg76His) rs752435787 0.00001
NM_003673.4(TCAP):c.260G>A (p.Arg87Gln) rs121434298 0.00001
NM_003673.4(TCAP):c.262G>T (p.Val88Leu) rs756715463 0.00001
NM_003673.4(TCAP):c.290C>T (p.Ala97Val) rs774516749 0.00001
NM_003673.4(TCAP):c.334C>T (p.Gln112Ter) rs794729175 0.00001
NM_003673.4(TCAP):c.37G>A (p.Glu13Lys) rs1042724474 0.00001
NM_003673.4(TCAP):c.389G>A (p.Arg130His) rs147503632 0.00001
NM_003673.4(TCAP):c.401C>A (p.Ala134Asp) rs786205287 0.00001
NM_003673.4(TCAP):c.441C>T (p.Ser147=) rs1380602024 0.00001
NM_003673.4(TCAP):c.473G>A (p.Arg158His) rs397516864 0.00001
NM_003673.4(TCAP):c.496A>G (p.Arg166Gly) rs1321654718 0.00001
NM_003673.4(TCAP):c.49C>T (p.Arg17Cys) rs869025530 0.00001
NM_003673.4(TCAP):c.52C>T (p.Arg18Trp) rs886038989 0.00001
NM_003673.4(TCAP):c.98G>A (p.Arg33Gln) rs1085307822 0.00001
NC_000017.10:g.(?_37821603)_(37822372_?)dup
NC_000017.10:g.(?_37821613)_(38458253_?)dup
NM_003673.4(TCAP):c.105G>A (p.Glu35=)
NM_003673.4(TCAP):c.110+13C>A
NM_003673.4(TCAP):c.110+5G>C
NM_003673.4(TCAP):c.110+6T>G
NM_003673.4(TCAP):c.111C>G (p.Gly37=)
NM_003673.4(TCAP):c.116C>G (p.Ser39Cys) rs1555607027
NM_003673.4(TCAP):c.122A>G (p.His41Arg)
NM_003673.4(TCAP):c.126GGA[1] (p.Glu43del) rs1221886757
NM_003673.4(TCAP):c.130G>A (p.Asp44Asn)
NM_003673.4(TCAP):c.134C>T (p.Thr45Ile)
NM_003673.4(TCAP):c.137A>G (p.Gln46Arg) rs2057249911
NM_003673.4(TCAP):c.148A>G (p.Thr50Ala) rs2057250048
NM_003673.4(TCAP):c.14A>G (p.Glu5Gly)
NM_003673.4(TCAP):c.169T>C (p.Cys57Arg) rs886042772
NM_003673.4(TCAP):c.178C>G (p.Leu60Val)
NM_003673.4(TCAP):c.198G>C (p.Trp66Cys)
NM_003673.4(TCAP):c.202A>G (p.Met68Val) rs770133993
NM_003673.4(TCAP):c.202ATG[1] (p.Met69del) rs2145073493
NM_003673.4(TCAP):c.204G>A (p.Met68Ile) rs1480109974
NM_003673.4(TCAP):c.211A>G (p.Met71Val)
NM_003673.4(TCAP):c.212T>C (p.Met71Thr)
NM_003673.4(TCAP):c.218T>C (p.Ile73Thr)
NM_003673.4(TCAP):c.22T>A (p.Cys8Ser) rs1597805144
NM_003673.4(TCAP):c.22T>C (p.Cys8Arg) rs1597805144
NM_003673.4(TCAP):c.239A>G (p.Glu80Gly) rs2145073624
NM_003673.4(TCAP):c.23G>T (p.Cys8Phe) rs899342367
NM_003673.4(TCAP):c.240G>T (p.Glu80Asp) rs758101613
NM_003673.4(TCAP):c.265C>A (p.Leu89Met)
NM_003673.4(TCAP):c.269C>A (p.Pro90Gln) rs727504427
NM_003673.4(TCAP):c.275C>A (p.Pro92His) rs2057251380
NM_003673.4(TCAP):c.277A>G (p.Ile93Val)
NM_003673.4(TCAP):c.278T>C (p.Ile93Thr) rs2057251438
NM_003673.4(TCAP):c.286C>T (p.Pro96Ser) rs1597805580
NM_003673.4(TCAP):c.294_295delinsAG (p.Met99Val) rs2057251619
NM_003673.4(TCAP):c.310GAG[1] (p.Glu105del) rs748506107
NM_003673.4(TCAP):c.313G>A (p.Glu105Lys) rs146906267
NM_003673.4(TCAP):c.316C>A (p.Arg106Ser) rs45578741
NM_003673.4(TCAP):c.317G>T (p.Arg106Leu) rs576098128
NM_003673.4(TCAP):c.325A>G (p.Thr109Ala)
NM_003673.4(TCAP):c.330del (p.Ile111fs) rs2057251924
NM_003673.4(TCAP):c.331A>C (p.Ile111Leu) rs2057251976
NM_003673.4(TCAP):c.332dup (p.Gln112fs)
NM_003673.4(TCAP):c.343G>A (p.Glu115Lys) rs1060502965
NM_003673.4(TCAP):c.344A>T (p.Glu115Val) rs1597805658
NM_003673.4(TCAP):c.34G>C (p.Glu12Gln)
NM_003673.4(TCAP):c.34_48dup (p.Glu16_Arg17insGluGluAsnCysGlu)
NM_003673.4(TCAP):c.353C>A (p.Ala118Glu) rs143233087
NM_003673.4(TCAP):c.380G>A (p.Cys127Tyr)
NM_003673.4(TCAP):c.386A>C (p.Asp129Ala) rs1324156287
NM_003673.4(TCAP):c.387C>G (p.Asp129Glu) rs768942598
NM_003673.4(TCAP):c.388C>A (p.Arg130Ser) rs374886575
NM_003673.4(TCAP):c.389G>C (p.Arg130Pro) rs147503632
NM_003673.4(TCAP):c.394G>C (p.Glu132Gln)
NM_003673.4(TCAP):c.397G>A (p.Val133Met)
NM_003673.4(TCAP):c.402del (p.Glu135fs)
NM_003673.4(TCAP):c.406A>C (p.Ile136Leu) rs2145074399
NM_003673.4(TCAP):c.407T>A (p.Ile136Asn) rs2145074402
NM_003673.4(TCAP):c.408_410delinsA (p.Thr137fs)
NM_003673.4(TCAP):c.415C>T (p.Gln139Ter) rs2145074459
NM_003673.4(TCAP):c.422C>T (p.Pro141Leu) rs1168993495
NM_003673.4(TCAP):c.424C>A (p.Pro142Thr) rs964326898
NM_003673.4(TCAP):c.425_426del (p.Pro142fs) rs2145074542
NM_003673.4(TCAP):c.425del (p.Pro142fs)
NM_003673.4(TCAP):c.428T>G (p.Val143Gly)
NM_003673.4(TCAP):c.445C>G (p.Pro149Ala) rs932397209
NM_003673.4(TCAP):c.446C>G (p.Pro149Arg) rs1271647421
NM_003673.4(TCAP):c.448G>C (p.Gly150Arg)
NM_003673.4(TCAP):c.450dup (p.Ala151fs) rs2145074763
NM_003673.4(TCAP):c.452_453delinsTC (p.Ala151Val) rs2057253289
NM_003673.4(TCAP):c.457C>A (p.Arg153Ser) rs761498487
NM_003673.4(TCAP):c.464C>G (p.Ser155Cys)
NM_003673.4(TCAP):c.46G>A (p.Glu16Lys) rs2145072261
NM_003673.4(TCAP):c.470C>T (p.Ser157Phe) rs2057253611
NM_003673.4(TCAP):c.472C>T (p.Arg158Cys) rs397516863
NM_003673.4(TCAP):c.473G>T (p.Arg158Leu) rs397516864
NM_003673.4(TCAP):c.476C>G (p.Ser159Cys) rs1427293841
NM_003673.4(TCAP):c.478A>G (p.Met160Val) rs1057106389
NM_003673.4(TCAP):c.479T>C (p.Met160Thr)
NM_003673.4(TCAP):c.479_494del (p.Met160fs) rs2145074994
NM_003673.4(TCAP):c.481T>A (p.Ser161Thr) rs1567865417
NM_003673.4(TCAP):c.493C>G (p.Gln165Glu) rs397516865
NM_003673.4(TCAP):c.499G>A (p.Gly167Ser) rs794729177
NM_003673.4(TCAP):c.500G>C (p.Gly167Ala)
NM_003673.4(TCAP):c.504AG[1] (p.Ter168=) rs2057253961
NM_003673.4(TCAP):c.50G>A (p.Arg17His)
NM_003673.4(TCAP):c.50G>C (p.Arg17Pro) rs750796201
NM_003673.4(TCAP):c.50_51delinsCT (p.Arg17Pro) rs1555606961
NM_003673.4(TCAP):c.58G>T (p.Ala20Ser) rs2057247244
NM_003673.4(TCAP):c.62_64del (p.Phe21del)
NM_003673.4(TCAP):c.88C>G (p.Leu30Val) rs1282445039
NM_003673.4(TCAP):c.98G>T (p.Arg33Leu) rs1085307822

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