ClinVar Miner

List of variants in gene KCNH2 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=) rs200799870 0.00134
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) rs143011005 0.00097
NM_000238.4(KCNH2):c.51C>G (p.Thr17=) rs144338227 0.00083
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375 0.00022
NM_000238.4(KCNH2):c.2659C>T (p.Arg887Cys) rs140279503 0.00006
NM_000238.4(KCNH2):c.1067G>A (p.Arg356His) rs730880118 0.00003
NM_000238.4(KCNH2):c.2331C>T (p.Thr777=) rs41307292 0.00002
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=) rs144926928
NM_000238.4(KCNH2):c.2678_2683dup (p.Arg893_Arg894dup) rs773546753
NM_000238.4(KCNH2):c.2711A>T (p.Glu904Val) rs794727044

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