ClinVar Miner

List of variants studied for familial restrictive cardiomyopathy by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter) rs752921215

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