ClinVar Miner

List of variants studied for hypertrophic cardiomyopathy by Breakthrough Genomics, Breakthrough Genomics

Included ClinVar conditions (244):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000018.4(ACADVL):c.640_643del (p.Phe214fs) rs2142976616
NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter) rs727503788
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728

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