ClinVar Miner

List of variants in gene RHBDF1 reported as uncertain significance for heart conduction disease

Included ClinVar conditions (98):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_022450.5(RHBDF1):c.1613C>T (p.Ala538Val) rs201706583 0.00019
NM_022450.5(RHBDF1):c.200G>A (p.Arg67Gln) rs757169652 0.00007
NM_022450.5(RHBDF1):c.1384G>A (p.Gly462Arg) rs760441920 0.00003
NM_022450.5(RHBDF1):c.14G>A (p.Arg5His) rs376110986
NM_022450.5(RHBDF1):c.47A>C (p.Lys16Thr) rs999812302

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