ClinVar Miner

List of variants studied for cardiomyopathy by Courtagen Diagnostics Laboratory, Courtagen Life Sciences

Included ClinVar conditions (519):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035

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