List of variants in gene KCNH1 reported as uncertain significance for Zimmermann-Laband syndrome 1; Temple-Baraitser 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: 8

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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.2392G>A (p.Val798Ile)	rs761754626	0.00006
NM_172362.3(KCNH1):c.1022G>A (p.Arg341Lys)	rs755319456	0.00001
NM_172362.3(KCNH1):c.2482G>A (p.Gly828Arg)	rs752232888	0.00001
NM_172362.3(KCNH1):c.2930A>G (p.Gln977Arg)	rs1334977288	0.00001
NM_172362.3(KCNH1):c.1180G>A (p.Ala394Thr)	rs2102561634
NM_172362.3(KCNH1):c.2198C>T (p.Pro733Leu)
NM_172362.3(KCNH1):c.2788A>G (p.Arg930Gly)	rs2149000661

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