ClinVar Miner

List of variants in gene combination ABCA12, SNHG31 reported as likely pathogenic

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_173076.3(ABCA12):c.6293C>A (p.Ala2098Asp) rs1291672671 0.00001
NM_173076.3(ABCA12):c.7247C>T (p.Pro2416Leu) rs764355087 0.00001
NM_173076.3(ABCA12):c.7276C>T (p.Arg2426Trp) rs771593783 0.00001
NM_173076.3(ABCA12):c.5939+4A>G rs1131692156
NM_173076.3(ABCA12):c.6394-2A>G rs990205047
NM_173076.3(ABCA12):c.6458G>T (p.Gly2153Val) rs2105931529
NM_173076.3(ABCA12):c.6463G>T (p.Gly2155Cys) rs750214847
NM_173076.3(ABCA12):c.6781_6782dup (p.Thr2262fs) rs2469146553
NM_173076.3(ABCA12):c.6785_6852+13delinsT
NM_173076.3(ABCA12):c.6852+2T>G rs2469146316
NM_173076.3(ABCA12):c.6962+1G>T rs767101129
NM_173076.3(ABCA12):c.6962+2T>C rs2469139427
NM_173076.3(ABCA12):c.6962+2del rs2469139434
NM_173076.3(ABCA12):c.6963-1G>A
NM_173076.3(ABCA12):c.6963-2A>G rs2469138327
NM_173076.3(ABCA12):c.7105-1G>A rs1559107162
NM_173076.3(ABCA12):c.7105-3_7105-2delinsTT rs2469134106
NM_173076.3(ABCA12):c.7172G>A (p.Ser2391Asn) rs1085308032
NM_173076.3(ABCA12):c.7172G>T (p.Ser2391Ile) rs1085308032
NM_173076.3(ABCA12):c.7240-1G>T rs2469126181
NM_173076.3(ABCA12):c.7277G>A (p.Arg2426Gln) rs761068277
NM_173076.3(ABCA12):c.7405T>C (p.Cys2469Arg) rs2105917488
NM_173076.3(ABCA12):c.7542+1G>A rs2469102307

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