ClinVar Miner

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

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_016222.4(DDX41):c.3G>A (p.Met1Ile) rs141601766 0.00012
NM_016222.4(DDX41):c.1436G>A (p.Arg479Gln) rs200307685 0.00010
NM_016222.4(DDX41):c.142C>T (p.Gln48Ter) rs377745714 0.00005
NM_001012339.3(DNAJC21):c.517C>T (p.Arg173Ter) rs150576702 0.00003
NM_001012339.3(DNAJC21):c.983+1G>A rs368148362 0.00002
NM_016222.4(DDX41):c.253G>T (p.Val85Phe) rs773991873 0.00002
NM_002582.4(PARN):c.918+1G>T rs756132866 0.00001
NM_016222.4(DDX41):c.517G>A (p.Gly173Arg) rs746166328 0.00001
NM_001012339.3(DNAJC21):c.793G>T (p.Glu265Ter) rs770282904
NM_001012339.3(DNAJC21):c.94C>G (p.Pro32Ala) rs879253818
NM_001071.4(TYMS):c.259G>A (p.Glu87Lys) rs2144258402
NM_001071.4(TYMS):c.343C>T (p.Arg115Ter) rs2046518776
NM_001071.4(TYMS):c.480A>T (p.Gln160His) rs894600614
NM_001071.4(TYMS):c.486_487del (p.Arg163fs) rs2144335544
NM_001071.4(TYMS):c.534_535insTG (p.Met179Ter) rs2144335824
NM_001071.4(TYMS):c.556+1G>A rs2144335968
NM_001071.4(TYMS):c.811C>T (p.Arg271Ter) rs1703168604
NM_001754.5(RUNX1):c.1088_1094del (p.Gly363fs) rs2056458051
NM_001754.5(RUNX1):c.165dup (p.Leu56fs) rs2058004321
NM_001754.5(RUNX1):c.351+1G>A rs1060502579
NM_001754.5(RUNX1):c.588del (p.Val197fs) rs2057541271
NM_002582.3(PARN):c.[659+4_659+7delAGTA(;)863dupA]
NM_002582.4(PARN):c.1148C>T (p.Ala383Val) rs786200999
NM_016222.4(DDX41):c.155dup (p.Arg53fs) rs766117035
NM_016222.4(DDX41):c.1586_1587del (p.Thr529fs) rs866179648
NM_016222.4(DDX41):c.370C>T (p.Arg124Ter) rs1297703150
NM_016222.4(DDX41):c.719delinsCG (p.Ile240fs) rs1761157695
NM_020207.7(ERCC6L2):c.1973G>A (p.Ser658Asn) rs1453856448
NM_020207.7(ERCC6L2):c.2474_2484delinsAAAG (p.Thr825fs) rs2133079257
NM_020207.7(ERCC6L2):c.2734del (p.Glu912fs) rs2133080742
NM_020207.7(ERCC6L2):c.2919_2923del (p.Lys974fs) rs2133081935
NM_020207.7:c.[2156delG];[3300_3303delTCAA]
NM_020207.7:c.[3409_3410delAT];[3763C>T]
Single allele

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