ClinVar Miner

List of variants reported as uncertain significance for Zimmermann-Laband syndrome 1

Included ClinVar conditions (2):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_172362.3(KCNH1):c.2162T>C (p.Met721Thr) rs140043333 0.00008
NM_172362.3(KCNH1):c.2482G>A (p.Gly828Arg) rs752232888 0.00001
NM_172362.3(KCNH1):c.1034G>C (p.Gly345Ala) rs1558526097
NM_172362.3(KCNH1):c.1180G>A (p.Ala394Thr) rs2102561634
NM_172362.3(KCNH1):c.137A>G (p.Asn46Ser)
NM_172362.3(KCNH1):c.1717C>T (p.Arg573Cys) rs1684345922
NM_172362.3(KCNH1):c.1958C>T (p.Thr653Ile) rs1683842802
NM_172362.3(KCNH1):c.2658G>C (p.Lys886Asn)
NM_172362.3(KCNH1):c.2859_2861delinsTAC (p.Glu953_Ile954delinsAspThr) rs1681322266

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