ClinVar Miner

List of variants reported as likely pathogenic for Salla disease by Counsyl

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs) rs386833988 0.00007
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795 0.00007
NM_012434.5(SLC17A5):c.533del (p.Thr178fs) rs727504156 0.00006
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=) rs386833990 0.00002
NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter) rs1057516910 0.00001
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His) rs769235753 0.00001
NM_012434.5(SLC17A5):c.1259+1G>A rs146095590 0.00001
NM_012434.5(SLC17A5):c.667dup (p.Tyr223fs) rs1472109408 0.00001
NM_012434.5(SLC17A5):c.1121del (p.Gly374fs) rs1057517119
NM_012434.5(SLC17A5):c.1127del (p.Ala376fs) rs1057517111
NM_012434.5(SLC17A5):c.1208del (p.Gly403fs) rs1554161865
NM_012434.5(SLC17A5):c.1259+1G>T rs146095590
NM_012434.5(SLC17A5):c.1350+1G>A rs1057516951
NM_012434.5(SLC17A5):c.204del (p.Asp69fs) rs1057516549
NM_012434.5(SLC17A5):c.215_216del (p.Thr72fs) rs1057516505
NM_012434.5(SLC17A5):c.215del (p.Thr72fs) rs1057517269
NM_012434.5(SLC17A5):c.292-1G>C rs1554164322
NM_012434.5(SLC17A5):c.292-2A>C rs1057516528
NM_012434.5(SLC17A5):c.349dup (p.Tyr117fs) rs772039085
NM_012434.5(SLC17A5):c.384T>A (p.Tyr128Ter) rs1057516257
NM_012434.5(SLC17A5):c.409del (p.Met137fs) rs794729653
NM_012434.5(SLC17A5):c.423del (p.Phe141fs) rs1057516419
NM_012434.5(SLC17A5):c.613+2T>A rs1554164078
NM_012434.5(SLC17A5):c.614-1G>A rs1554163958
NM_012434.5(SLC17A5):c.693del (p.Phe233fs) rs1057516862
NM_012434.5(SLC17A5):c.700+2T>C rs1440688652
NM_012434.5(SLC17A5):c.718dup (p.Trp240fs) rs1554163878
NM_012434.5(SLC17A5):c.819+1G>A rs1057517028
NM_012434.5(SLC17A5):c.820-2A>C rs1554162842
NM_012434.5(SLC17A5):c.905del (p.Asn302fs) rs771156053
NM_012434.5(SLC17A5):c.909G>A (p.Trp303Ter) rs1057516601
NM_012434.5(SLC17A5):c.979-2A>G rs1554162230

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