ClinVar Miner

List of variants studied for Kallmann syndrome by Mendelics

Included ClinVar conditions (26):
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001946.4(DUSP6):c.340G>T (p.Val114Leu) rs2279574 0.48185
NM_006080.3(SEMA3A):c.458A>G (p.Asn153Ser) rs139295139 0.00254
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg) rs74315416 0.00220
NM_006080.3(SEMA3A):c.1198A>G (p.Ile400Val) rs36026860 0.00100
NM_001126128.2(PROK2):c.-4C>A rs552496938 0.00073
NM_144773.4(PROKR2):c.889G>A (p.Val297Ile) rs139399061 0.00039
NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu) rs139007744 0.00031
NM_000216.4(ANOS1):c.1678G>A (p.Val560Ile) rs2229013 0.00019
NM_001126128.2(PROK2):c.163del (p.Ser54_Ile55insTer) rs554675432 0.00013
NM_006080.3(SEMA3A):c.2062A>G (p.Thr688Ala) rs318240751 0.00013
NM_000216.4(ANOS1):c.255+5G>A rs773138384 0.00004
NM_144773.4(PROKR2):c.253C>T (p.Arg85Cys) rs141090506

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