ClinVar Miner

List of variants studied for cardiomyopathy, familial restrictive, 1

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_000363.5(TNNI3):c.373-10= rs7252610 0.99999
NM_000363.5(TNNI3):c.25-8T>A rs3729836 0.35138
NM_000363.5(TNNI3):c.-35C>A rs3729707 0.07367
NM_000363.5(TNNI3):c.150+13G>A rs73617692 0.07353
NM_000363.5(TNNI3):c.537G>A (p.Glu179=) rs3729841 0.04860
NM_000363.5(TNNI3):c.204G>T (p.Arg68=) rs3729711 0.04033
NM_000363.5(TNNI3):c.198G>A (p.Glu66=) rs3729710 0.03372
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_000363.5(TNNI3):c.-47C>T rs202159627 0.00625
NM_001256715.2(DNAAF3):c.1248G>A (p.Val416=) rs111250144 0.00398
NM_000363.5(TNNI3):c.273G>A (p.Ala91=) rs75491697 0.00198
NM_000363.5(TNNI3):c.109-17C>A rs139150276 0.00147
NM_000363.5(TNNI3):c.373-15C>G rs192630178 0.00141
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys) rs3729712 0.00048
NM_000363.5(TNNI3):c.373-16C>T rs373508654 0.00021
NM_000363.5(TNNI3):c.132G>C (p.Ser44=) rs727504941 0.00012
NM_000363.5(TNNI3):c.373-4C>G rs2288530 0.00007
NM_000363.5(TNNI3):c.139T>C (p.Leu47=) rs587780967 0.00006
NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn) rs184709702 0.00006
NM_000363.5(TNNI3):c.*35C>T rs375447438 0.00004
NM_000363.5(TNNI3):c.*44A>G rs1182120462 0.00004
NM_000363.5(TNNI3):c.292C>T (p.Arg98Ter) rs730881068 0.00004
NM_000363.5(TNNI3):c.372+7C>T rs367809676 0.00004
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) rs397516347 0.00004
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241 0.00004
NM_000363.5(TNNI3):c.108+4G>T rs878853954 0.00003
NM_000258.3(MYL3):c.461G>A (p.Arg154His) rs104893749 0.00002
NM_000363.5(TNNI3):c.151-6C>G rs377258542 0.00002
NM_000363.5(TNNI3):c.283-9C>T rs759922995 0.00002
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349 0.00002
NM_000363.5(TNNI3):c.439G>C (p.Val147Leu) rs777782551 0.00002
NM_000363.5(TNNI3):c.92C>T (p.Thr31Met) rs201928445 0.00002
NM_000363.5(TNNI3):c.-45C>T rs1242688089 0.00001
NM_000363.5(TNNI3):c.108+2T>G rs1057520417 0.00001
NM_000363.5(TNNI3):c.167T>C (p.Ile56Thr) rs545441942 0.00001
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) rs104894724 0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_000363.5(TNNI3):c.550-11C>T rs886054635 0.00001
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) rs104894727 0.00001
NM_000363.5(TNNI3):c.620A>G (p.Lys207Arg) rs367672692 0.00001
NM_001256715.2(DNAAF3):c.484C>A (p.Arg162Ser) rs760391305 0.00001
NM_001458.5(FLNC):c.2746C>T (p.Arg916Trp) rs762095761 0.00001
NM_000363.5(TNNI3):c.-98C>A rs12973773
NM_000363.5(TNNI3):c.104C>A (p.Ala35Asp) rs1190447904
NM_000363.5(TNNI3):c.104C>T (p.Ala35Val) rs1190447904
NM_000363.5(TNNI3):c.109-15A>G rs779144176
NM_000363.5(TNNI3):c.114dup (p.Ser39fs) rs772607683
NM_000363.5(TNNI3):c.130T>G (p.Ser44Ala) rs2147285302
NM_000363.5(TNNI3):c.220C>T (p.Arg74Cys) rs375795196
NM_000363.5(TNNI3):c.221G>C (p.Arg74Pro) rs886039022
NM_000363.5(TNNI3):c.356C>T (p.Thr119Ile) rs184709702
NM_000363.5(TNNI3):c.379G>T (p.Asp127Tyr) rs1114167340
NM_000363.5(TNNI3):c.431T>A (p.Leu144Gln) rs121917760
NM_000363.5(TNNI3):c.466C>G (p.Gln156Glu) rs2085712011
NM_000363.5(TNNI3):c.508C>G (p.Arg170Gly) rs727503504
NM_000363.5(TNNI3):c.508C>T (p.Arg170Trp) rs727503504
NM_000363.5(TNNI3):c.511G>A (p.Ala171Thr) rs121917761
NM_000363.5(TNNI3):c.532A>G (p.Lys178Glu) rs104894730
NM_000363.5(TNNI3):c.569A>G (p.Asp190Gly) rs104894728
NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys) rs727503499
NM_000363.5(TNNI3):c.575G>A (p.Arg192His) rs104894729
NM_000363.5(TNNI3):c.627G>C (p.Glu209Asp) rs1555862947
NM_001256715.2(DNAAF3):c.990C>T (p.Thr330=) rs371092262
NM_001289808.2(CRYAB):c.326A>G (p.Asp109Gly) rs1114167341

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