ClinVar Miner

List of variants in gene KCNH1 reported as uncertain significance for Temple-Baraitser syndrome

Included ClinVar conditions (2):
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Gene type:
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Total variants: 9
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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.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.1180G>A (p.Ala394Thr) rs2102561634
NM_172362.3(KCNH1):c.1493T>C (p.Val498Ala) rs2102406845
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

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