ClinVar Miner

List of variants studied for KCNH1 associated disorder by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_172362.3(KCNH1):c.1124G>A (p.Gly375Glu) rs2527120727
NM_172362.3(KCNH1):c.2020C>T (p.Arg674Trp) rs754794236
NM_172362.3(KCNH1):c.2636C>T (p.Ser879Leu) rs2149000783
NM_172362.3(KCNH1):c.2735A>C (p.His912Pro) rs2149000714

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