ClinVar Miner

List of variants in gene SLC12A6 reported by Eurofins NTD LLC (GA)

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001 0.00537
NM_001365088.1(SLC12A6):c.3042+8A>G rs186141509 0.00245
NM_001365088.1(SLC12A6):c.3249G>A (p.Arg1083=) rs149640638 0.00061
NM_001365088.1(SLC12A6):c.230C>G (p.Pro77Arg) rs369793136 0.00003
NM_001365088.1(SLC12A6):c.1013G>A (p.Arg338His) rs769714833 0.00001
NM_001365088.1(SLC12A6):c.1219G>A (p.Gly407Arg) rs745569165
NM_001365088.1(SLC12A6):c.2293C>G (p.Leu765Val) rs779541247

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