ClinVar Miner

List of variants reported as likely pathogenic for Salla disease by Baylor Genetics

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs) rs1234745577 0.00001
NM_012434.5(SLC17A5):c.667dup (p.Tyr223fs) rs1472109408 0.00001
NM_012434.5(SLC17A5):c.1111+1G>T rs777862172
NM_012434.5(SLC17A5):c.1121del (p.Gly374fs) rs1057517119
NM_012434.5(SLC17A5):c.1259+1G>T rs146095590
NM_012434.5(SLC17A5):c.1350+1G>A rs1057516951
NM_012434.5(SLC17A5):c.169C>T (p.Arg57Cys) rs754150739
NM_012434.5(SLC17A5):c.221T>G (p.Leu74Ter)
NM_012434.5(SLC17A5):c.254del (p.Glu85fs)
NM_012434.5(SLC17A5):c.286C>T (p.Gln96Ter)
NM_012434.5(SLC17A5):c.289dup (p.Thr97fs)
NM_012434.5(SLC17A5):c.294_310del
NM_012434.5(SLC17A5):c.308G>A (p.Trp103Ter)
NM_012434.5(SLC17A5):c.409del (p.Met137fs) rs794729653
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter) rs727504157
NM_012434.5(SLC17A5):c.548A>G (p.His183Arg) rs119491109
NM_012434.5(SLC17A5):c.609dup (p.Ala204fs)
NM_012434.5(SLC17A5):c.613+1G>A rs1769124033
NM_012434.5(SLC17A5):c.619C>T (p.Gln207Ter) rs1769021763
NM_012434.5(SLC17A5):c.693del (p.Phe233fs) rs1057516862
NM_012434.5(SLC17A5):c.699del (p.Phe233fs) rs779548058
NM_012434.5(SLC17A5):c.700+2T>C rs1440688652
NM_012434.5(SLC17A5):c.701-1G>A
NM_012434.5(SLC17A5):c.735dup (p.Trp246fs)
NM_012434.5(SLC17A5):c.738G>A (p.Trp246Ter) rs755923873
NM_012434.5(SLC17A5):c.790G>T (p.Glu264Ter)
NM_012434.5(SLC17A5):c.846_849del (p.Trp282fs)
NM_012434.5(SLC17A5):c.905del (p.Asn302fs) rs771156053
NM_012434.5(SLC17A5):c.94+2T>A rs1769984400
NM_012434.5(SLC17A5):c.95-1G>A
NM_012434.5(SLC17A5):c.95-1G>T
NM_012434.5(SLC17A5):c.979-2A>G rs1554162230
NM_012434.5(SLC17A5):c.983G>A (p.Gly328Glu) rs386833996
NM_012434.5(SLC17A5):c.998del (p.Leu333fs) rs779494716
NM_012434.5:c.579_580insAlu

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