List of variants reported as pathogenic for hematologic disorder by GeneReviews

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 71

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HGVS	dbSNP	gnomAD frequency
NM_000096.4(CP):c.1652C>T (p.Thr551Ile)	rs61733458	0.02154
NR_001566.3(TERC):n.58G>A	rs113487931	0.01733
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)	rs139633388	0.00162
NM_000096.4(CP):c.2158C>T (p.Arg720Trp)	rs145784949	0.00025
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu)	rs120074167	0.00013
NM_000096.4(CP):c.1049C>A (p.Ala350Asp)	rs386134127	0.00003
NM_000096.4(CP):c.229G>C (p.Asp77His)	rs200683433	0.00002
NC_000003.12:g.169764611C>T	rs199422287	0.00001
NM_000096.4(CP):c.1209-2A>G	rs386134137	0.00001
NM_000096.4(CP):c.2689_2690del (p.Leu897fs)	rs386134153	0.00001
NM_000096.4(CP):c.2701C>T (p.Arg901Ter)	rs386134156	0.00001
NM_000096.4(CP):c.395-1G>A	rs386134135	0.00001
NM_000096.4(CP):c.548T>C (p.Ile183Thr)	rs386134123	0.00001
NM_000096.4(CP):c.643C>T (p.Arg215Ter)	rs386134155	0.00001
NC_000001.10:g.(196712876_196712928)_(196797494_196797546)del
NC_000001.10:g.(?_145413072)_(145592772_145596903)del
NC_000003.12:g.169765160G>C	rs199422256
NC_000016.10:g.172005_177200del
NC_000016.10:g.173384_177187del
NM_000096.3(CP):c.1209_1210dupTG (p.Asp404Valfs)	rs386134138
NM_000096.4(CP):c.1123T>C (p.Tyr375His)	rs386134128
NM_000096.4(CP):c.1257_1258del (p.Ser419_Tyr420insTer)	rs386134144
NM_000096.4(CP):c.1282_1286dup (p.Asp430fs)	rs386134145
NM_000096.4(CP):c.146+1G>A	rs386134134
NM_000096.4(CP):c.1865-1G>A	rs386134139
NM_000096.4(CP):c.1874G>A (p.Gly625Glu)	rs386134129
NM_000096.4(CP):c.1918del (p.Asp640fs)	rs386134146
NM_000096.4(CP):c.2066del (p.Pro689fs)	rs386134147
NM_000096.4(CP):c.2068del (p.Asp690fs)	rs386134148
NM_000096.4(CP):c.2131C>A (p.Gln711Lys)	rs386134130
NM_000096.4(CP):c.2185del (p.Leu729fs)	rs587777922
NM_000096.4(CP):c.2389del (p.Glu797fs)	rs386134149
NM_000096.4(CP):c.2482del (p.Ala828fs)	rs386134150
NM_000096.4(CP):c.2511dup (p.Gly838fs)	rs386134151
NM_000096.4(CP):c.2554+1G>T	rs386134140
NM_000096.4(CP):c.2603del (p.Gly868fs)	rs386134152
NM_000096.4(CP):c.2630G>A (p.Trp877Ter)	rs121909579
NM_000096.4(CP):c.2675G>A (p.Gly892Glu)	rs386134131
NM_000096.4(CP):c.2879-1G>A	rs386134141
NM_000096.4(CP):c.2917dup (p.Thr973fs)	rs386134154
NM_000096.4(CP):c.2953A>G (p.Met985Val)	rs386134132
NM_000096.4(CP):c.3019-1G>A	rs386134142
NM_000096.4(CP):c.493C>G (p.Gln165Glu)	rs386134122
NM_000096.4(CP):c.587C>G (p.Pro196Arg)	rs386134124
NM_000096.4(CP):c.606dup (p.Asp203fs)	rs386134143
NM_000096.4(CP):c.607+1G>A	rs386134136
NM_000096.4(CP):c.650T>C (p.Phe217Ser)	rs386134125
NM_000096.4(CP):c.82A>T (p.Ile28Phe)	rs386134121
NM_000096.4(CP):c.848G>C (p.Trp283Ser)	rs386134126
NM_000265.7(NCF1):c.75_76del (p.Tyr26fs)	rs4029402
NM_000375.3(UROS):c.-26-183G>A	rs397515349
NM_000517.4:c.[-2_-3delAC;-alpha3.7]
NM_000517.4:c.[339C>G;340_351delCTCCCCGCCGAG]
NM_000558.5(HBA1):c.223G>C (p.Asp75His)	rs28928875
NM_001011.4(RPS7):c.147+1G>A	rs397507554
NM_001271696.3(ABCB7):c.1231G>C (p.Val411Leu)	rs80356713
NM_001271696.3(ABCB7):c.1297G>A (p.Glu433Lys)	rs80356714
NM_005332.2(HBZ):c.330_*22601del
NM_032383.5(HPS3):c.0_217+692del
NR_001566.3(TERC):n.108_111delCTGA	rs199422270
NR_001566.3(TERC):n.117A>C	rs199422273
NR_001566.3(TERC):n.178G>A	rs199422275
NR_001566.3(TERC):n.180C>T	rs199422276
NR_001566.3(TERC):n.26_32delGGGTGGT	rs199422259
NR_001566.3(TERC):n.305G>A	rs199422279
NR_001566.3(TERC):n.322G>A	rs199422280
NR_001566.3(TERC):n.323C>T	rs199422281
NR_001566.3(TERC):n.389_390delCC	rs199422283
NR_001566.3(TERC):n.72C>G	rs199422265
Single allele
nsv1067844

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