ClinVar Miner

List of variants in gene SLC12A3 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.249G>T (p.Arg83=) rs76750525 0.00433
NM_001126108.2(SLC12A3):c.307C>T (p.Leu103=) rs35005216 0.00257
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val) rs142679083 0.00157
NM_001126108.2(SLC12A3):c.2190C>T (p.Leu730=) rs150692587 0.00146
NM_001126108.2(SLC12A3):c.429+9G>A rs375425173 0.00101
NM_001126108.2(SLC12A3):c.742-6C>T rs370741134 0.00027
NM_001126108.2(SLC12A3):c.1710G>A (p.Ala570=) rs387907471 0.00008
NM_001126108.2(SLC12A3):c.2521+255G>A rs1037430183 0.00007
NM_001126108.2(SLC12A3):c.1164C>T (p.Ala388=) rs751046863 0.00006
NM_001126108.2(SLC12A3):c.1368G>A (p.Leu456=) rs139817489 0.00006
NM_001126108.2(SLC12A3):c.2595A>C (p.Val865=) rs146730493 0.00006
NM_001126108.2(SLC12A3):c.2419+8G>A rs372318235 0.00002
NM_001126108.2(SLC12A3):c.1096-42_1096-7del
NM_001126108.2(SLC12A3):c.1568-5C>G
NM_001126108.2(SLC12A3):c.1670-190G>A
NM_001126108.2(SLC12A3):c.1670-191C>G
NM_001126108.2(SLC12A3):c.2434C>T (p.Leu812=) rs201300295
NM_001126108.2(SLC12A3):c.450T>C (p.Ile150=) rs143714318

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