ClinVar Miner

List of variants studied for cardiomyopathy by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000231.3(SGCG):c.347G>A (p.Arg116His) rs17314986 0.09986
NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys) rs16990264 0.02084
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180 0.00920
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00041
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000256.3(MYBPC3):c.2197C>T (p.Arg733Cys) rs397515956 0.00006
NM_020433.5(JPH2):c.1282C>T (p.Gln428Ter) rs199896820 0.00004
NM_000256.3(MYBPC3):c.818G>A (p.Arg273His) rs376461745 0.00002
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) rs34738426 0.00002
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg) rs28936383 0.00001
NM_000257.4(MYH7):c.4075C>T (p.Arg1359Cys) rs45451303 0.00001
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) rs121908987 0.00001
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001927.4(DES):c.1064G>C (p.Arg355Pro) rs61368398
NM_003275.4(TMOD1):c.565C>T (p.Arg189Trp)
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) rs56984562

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