ClinVar Miner

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

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_016222.4(DDX41):c.3G>A (p.Met1Ile) rs141601766 0.00012
NM_001012339.3(DNAJC21):c.517C>T (p.Arg173Ter) rs150576702 0.00003
NM_001012339.3(DNAJC21):c.983+1G>A rs368148362 0.00002
NM_002582.4(PARN):c.918+1G>T rs756132866 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.343C>T (p.Arg115Ter) rs2046518776
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.370C>T (p.Arg124Ter) rs1297703150
NM_016222.4(DDX41):c.719delinsCG (p.Ile240fs) rs1761157695

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