ClinVar Miner

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

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Total variants: 9
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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.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.80-19dup rs56223346
NM_172362.3(KCNH1):c.80-6del rs56223346

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