List of variants in gene KCNH1 studied for Zimmermann-Laband syndrome 1; Temple-Baraitser syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_172362.3(KCNH1):c.2448G>A (p.Ala816=)	rs112047226	0.00991
NM_172362.3(KCNH1):c.2768A>C (p.Gln923Pro)	rs140939826	0.00058
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.1180G>A (p.Ala394Thr)	rs2102561634
NM_172362.3(KCNH1):c.1480A>G (p.Ile494Val)	rs727502819
NM_172362.3(KCNH1):c.1486G>A (p.Gly496Arg)	rs730882175
NM_172362.3(KCNH1):c.2788A>G (p.Arg930Gly)	rs2149000661
NM_172362.3(KCNH1):c.80-19dup	rs56223346
NM_172362.3(KCNH1):c.80-6del	rs56223346

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