ClinVar Miner

List of variants reported as uncertain significance for cardiomyopathy by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

Included ClinVar conditions (519):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001134363.3(RBM20):c.2042A>G (p.Tyr681Cys) rs372048968 0.00016
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His) rs79457258 0.00014
NM_001035.3(RYR2):c.1511G>A (p.Arg504His) rs201600087 0.00006
NM_001035.3(RYR2):c.5096G>A (p.Arg1699His) rs779464111 0.00002
NM_004281.4(BAG3):c.1651C>A (p.Gln551Lys) rs577455773 0.00001
NM_006767.4(LZTR1):c.1982G>A (p.Gly661Glu) rs750582696 0.00001
NM_000256.3(MYBPC3):c.626T>C (p.Leu209Pro) rs1595849592
NM_000256.3(MYBPC3):c.808G>A (p.Ala270Thr) rs775337081
NM_000257.4(MYH7):c.3363G>C (p.Glu1121Asp) rs886041113
NM_000257.4(MYH7):c.5105C>A (p.Ala1702Glu)
NM_000432.4(MYL2):c.487G>C (p.Glu163Gln) rs1131692323
NM_001035.3(RYR2):c.10241G>A (p.Arg3414Lys) rs1131692324
NM_001035.3(RYR2):c.11144A>G (p.Glu3715Gly) rs1573761441
NM_001035.3(RYR2):c.11234G>T (p.Ser3745Ile) rs1573821691
NM_001035.3(RYR2):c.1918A>G (p.Arg640Gly) rs886041109
NM_001035.3(RYR2):c.2468A>T (p.Tyr823Phe) rs759178071
NM_001035.3(RYR2):c.3257G>A (p.Arg1086Gln) rs749566870
NM_001035.3(RYR2):c.326G>A (p.Gly109Asp) rs1572014527
NM_001035.3(RYR2):c.5585A>G (p.Asp1862Gly) rs1559117209
NM_001035.3(RYR2):c.6394G>C (p.Val2132Leu) rs1553531684
NM_001035.3(RYR2):c.6520G>T (p.Val2174Phe) rs1131692321
NM_001035.3(RYR2):c.7469T>C (p.Val2490Ala) rs886041112
NM_001035.3(RYR2):c.94C>A (p.Gln32Lys) rs1553373926
NM_001103.4(ACTN2):c.2162G>T (p.Arg721Leu) rs546431200
NM_001103.4(ACTN2):c.616G>A (p.Asp206Asn)
NM_001267550.2(TTN):c.18001C>T (p.Gln6001Ter) rs765081807
NM_001458.5(FLNC):c.1610A>G (p.Tyr537Cys)
NM_001943.5(DSG2):c.1379T>A (p.Val460Asp)
NM_002471.4(MYH6):c.5737G>A (p.Asp1913Asn) rs1555332882
NM_002834.5(PTPN11):c.1095T>A (p.Ser365Arg)
NM_004415.4(DSP):c.5114G>T (p.Arg1705Met) rs1554108448
NM_006767.4(LZTR1):c.271A>G (p.Met91Val) rs1135401945
NM_006939.4(SOS2):c.1429C>T (p.Arg477Trp) rs1555370121
NM_006939.4(SOS2):c.496A>G (p.Met166Val) rs1555322175
NM_007078.3(LDB3):c.1410C>A (p.Asn470Lys) rs1135401943

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