ClinVar Miner

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

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His) rs79457258 0.00014
NM_001232.4(CASQ2):c.338G>A (p.Ser113Asn) rs199750975 0.00014
NM_001035.3(RYR2):c.1511G>A (p.Arg504His) rs201600087 0.00006
NM_001232.4(CASQ2):c.376G>C (p.Asp126His) rs727502908 0.00004
NM_001035.3(RYR2):c.5096G>A (p.Arg1699His) rs779464111 0.00002
NM_001035.3(RYR2):c.13081G>A (p.Glu4361Lys) rs794728795 0.00001
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_001232.4(CASQ2):c.118A>G (p.Lys40Glu) rs786205797

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