ClinVar Miner

List of variants in gene SLCO2A1 reported as pathogenic for not provided

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_005630.3(SLCO2A1):c.1624C>T (p.Arg542Cys) rs566240756 0.00008
NM_005630.3(SLCO2A1):c.1106G>A (p.Gly369Asp) rs200316980 0.00006
NM_005630.3(SLCO2A1):c.1807C>T (p.Arg603Ter) rs776813259 0.00004
NM_005630.3(SLCO2A1):c.547G>A (p.Gly183Arg) rs774038272 0.00002
NM_005630.3(SLCO2A1):c.1259G>T (p.Cys420Phe) rs387907295 0.00001
NM_005630.3(SLCO2A1):c.270C>G (p.Tyr90Ter) rs1381150705 0.00001
NM_005630.3(SLCO2A1):c.940+1G>A rs765249238 0.00001
NM_005630.3(SLCO2A1):c.1022del (p.Val341fs)
NM_005630.3(SLCO2A1):c.1183C>T (p.Gln395Ter)
NM_005630.3(SLCO2A1):c.1264_1265del (p.Thr422fs) rs2108041578
NM_005630.3(SLCO2A1):c.1497dup (p.Ala500fs)
NM_005630.3(SLCO2A1):c.1634del (p.Asn545fs) rs1559927542
NM_005630.3(SLCO2A1):c.1768del (p.Arg590fs)
NM_005630.3(SLCO2A1):c.1771C>T (p.Arg591Ter)
NM_005630.3(SLCO2A1):c.310G>T (p.Gly104Ter) rs387907297
NM_005630.3(SLCO2A1):c.664G>A (p.Gly222Arg) rs774795340
NM_005630.3(SLCO2A1):c.764G>A (p.Gly255Glu) rs387906806
NM_005630.3(SLCO2A1):c.794del (p.Ser264_Ser265insTer)

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