ClinVar Miner

List of variants studied for Temple-Baraitser syndrome

Included ClinVar conditions (2):
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Total variants: 22
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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.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.2265G>C (p.Glu755Asp) rs776649794 0.00002
NM_172362.3(KCNH1):c.2054C>T (p.Thr685Met) rs1349830428 0.00001
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.1069C>T (p.Arg357Trp) rs2102561827
NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln) rs886041300
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.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.80-19dup rs56223346
NM_172362.3(KCNH1):c.80-6del rs56223346

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