ClinVar Miner

List of variants reported as benign for Salla disease by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=) rs472294 0.10691
NM_012434.5(SLC17A5):c.606A>G (p.Ser202=) rs3757112 0.05389
NM_012434.5(SLC17A5):c.1111+7G>A rs146729568 0.01982
NM_012434.5(SLC17A5):c.886G>A (p.Val296Ile) rs16883930 0.01342
NM_012434.5(SLC17A5):c.33C>T (p.Asn11=) rs139255194 0.00433
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.1351-15del rs1341837566
NM_012434.5(SLC17A5):c.1351-15dup
NM_012434.5(SLC17A5):c.291+16dup
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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