ClinVar Miner

List of variants reported as benign for Salla disease by Natera, Inc.

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Total variants: 9
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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.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

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