ClinVar Miner

List of variants reported by Clinical Bioinformatic Lab, Royan Institute

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_002440.4(MSH4):c.2261C>T (p.Ser754Leu) rs377712900 0.00005
NM_005220.3(DLX3):c.263A>G (p.Tyr88Cys) rs772972332 0.00001
NM_000111.3(SLC26A3):c.1679T>A (p.Val560Asp)
NM_001271862.2(PNLDC1):c.743G>A (p.Gly248Asp) rs1781557432
NM_001282717.2(STAG3):c.1942G>A (p.Ala648Thr) rs2117315224
NM_001282717.2(STAG3):c.1953_1955del (p.Leu652del) rs2117315457
NM_004798.4(KIF3B):c.1032A>T (p.Pro344=) rs2047796277
NM_018417.6(ADCY10):c.1205_1206del (p.His402fs) rs779944215
NM_031907.3(USP26):c.1205A>C (p.Asn402Thr)

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