ClinVar Miner

List of variants studied for Kallmann syndrome by Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000216.4(ANOS1):c.1678G>A (p.Val560Ile) rs2229013 0.00019
NM_144773.4(PROKR2):c.533G>C (p.Trp178Ser) rs201835496 0.00003

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