List of variants in gene KCNH1 studied for 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: 16

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HGVS	dbSNP	gnomAD frequency
NM_172362.3(KCNH1):c.2136T>C (p.Asp712=)	rs1135317	0.72895
NM_172362.3(KCNH1):c.2265G>C (p.Glu755Asp)	rs776649794	0.00002
NM_172362.3(KCNH1):c.2054C>T (p.Thr685Met)	rs1349830428	0.00001
NM_172362.3(KCNH1):c.1034G>C (p.Gly345Ala)	rs1558526097
NM_172362.3(KCNH1):c.1069C>T (p.Arg357Trp)	rs2102561827
NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln)	rs886041300
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.1493T>C (p.Val498Ala)	rs2102406845
NM_172362.3(KCNH1):c.1508A>G (p.Gln503Arg)	rs727502821
NM_172362.3(KCNH1):c.1546C>T (p.Leu516Phe)	rs727502820
NM_172362.3(KCNH1):c.2206C>G (p.Pro736Ala)	rs1681345673
NM_172362.3(KCNH1):c.2735A>C (p.His912Pro)	rs2149000714
NM_172362.3(KCNH1):c.338T>C (p.Ile113Thr)	rs2102473134
NM_172362.3(KCNH1):c.651G>C (p.Lys217Asn)	rs727502822
NM_172362.3(KCNH1):c.80-6del	rs56223346

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