ClinVar Miner

List of variants studied for heart conduction disease by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (98):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.844C>T (p.Arg282Cys) rs199473082
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_006888.6(CALM1):c.161A>T (p.Asn54Ile) rs267607276

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