ClinVar Miner

List of variants reported as benign for Salla disease

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_012434.5(SLC17A5):c.979-87A>G rs628038 0.43140
NM_012434.5(SLC17A5):c.*971G>A rs670248 0.38715
NM_012434.5(SLC17A5):c.1112-36G>A rs4708065 0.32463
NM_012434.5(SLC17A5):c.*385C>G rs3734518 0.26106
NM_012434.5(SLC17A5):c.526-106G>T rs3757111 0.22477
NM_012434.5(SLC17A5):c.819+52G>A rs520589 0.16798
NM_012434.5(SLC17A5):c.819+79T>G rs558839 0.16769
NM_012434.5(SLC17A5):c.820-51C>G rs611580 0.16614
NM_012434.5(SLC17A5):c.978+70G>A rs610260 0.16613
NM_012434.5(SLC17A5):c.978+88C>T rs474661 0.16611
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=) rs472294 0.10691
NM_012434.5(SLC17A5):c.979-33G>A rs12199937 0.05489
NM_012434.5(SLC17A5):c.*193A>G rs3734517 0.05453
NM_012434.5(SLC17A5):c.606A>G (p.Ser202=) rs3757112 0.05389
NM_012434.5(SLC17A5):c.292-22T>C rs12206001 0.05386
NM_012434.5(SLC17A5):c.1111+7G>A rs146729568 0.01982
NM_012434.5(SLC17A5):c.*909C>T rs142349844 0.01560
NM_012434.5(SLC17A5):c.886G>A (p.Val296Ile) rs16883930 0.01342
NM_012434.5(SLC17A5):c.820-3C>T rs12201641 0.00436
NM_012434.5(SLC17A5):c.33C>T (p.Asn11=) rs139255194 0.00433
NM_012434.5(SLC17A5):c.553A>G (p.Met185Val) rs34348416 0.00257
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile) rs74360232 0.00215
NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr) rs141463026 0.00098
NM_012434.5(SLC17A5):c.1112-18A>G rs751782561 0.00049
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=) rs147732875 0.00041
NM_012434.5(SLC17A5):c.*764G>A rs139964473
NM_012434.5(SLC17A5):c.1351-15del rs1341837566
NM_012434.5(SLC17A5):c.1351-15dup
NM_012434.5(SLC17A5):c.291+16dup
NM_012434.5(SLC17A5):c.525+36G>C rs12192476
NM_012434.5(SLC17A5):c.94+13del
NM_012434.5(SLC17A5):c.95-19del
NM_012434.5(SLC17A5):c.978+11dup rs2150099214

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