ClinVar Miner

List of variants reported as uncertain significance by Bone Marrow Failure laboratory, Queen Mary University London

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_016222.4(DDX41):c.1436G>A (p.Arg479Gln) rs200307685 0.00010
NM_016222.4(DDX41):c.253G>T (p.Val85Phe) rs773991873 0.00002
NM_016222.4(DDX41):c.517G>A (p.Gly173Arg) rs746166328 0.00001
NM_001071.4(TYMS):c.259G>A (p.Glu87Lys) rs2144258402
NM_001071.4(TYMS):c.480A>T (p.Gln160His) rs894600614
NM_020207.7(ERCC6L2):c.1973G>A (p.Ser658Asn) rs1453856448

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