List of variants in gene KCNH1 reported as uncertain significance for Zimmermann-Laband syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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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.115G>T (p.Asp39Tyr)
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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