List of variants reported as likely pathogenic for anemia by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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

Total variants: 120

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HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln)	rs371753672	0.00017
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys)	rs201777056	0.00009
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu)	rs80338694	0.00009
NM_018368.4(LMBRD1):c.1338+2T>C	rs147270670	0.00007
NM_000136.3(FANCC):c.521+1G>A	rs145394391	0.00004
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys)	rs372321643	0.00004
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)	rs149851163	0.00003
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)	rs371897078	0.00003
NM_001018115.3(FANCD2):c.2605+1G>A	rs142365855	0.00003
NM_000135.4(FANCA):c.1777-1G>C	rs755104393	0.00002
NM_000136.3(FANCC):c.1302dup (p.Gly435fs)	rs730881709	0.00002
NM_000136.3(FANCC):c.843+1G>A	rs587779909	0.00002
NM_000398.7(CYB5R3):c.875G>A (p.Gly292Asp)	rs121965016	0.00002
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter)	rs745930696	0.00002
NM_000135.4(FANCA):c.991del (p.Ser331fs)	rs746236214	0.00001
NM_000136.3(FANCC):c.996+1G>T	rs370510954	0.00001
NM_000289.6(PFKM):c.1191+1G>A	rs746348793	0.00001
NM_000518.5(HBB):c.-136C>T	rs33994806	0.00001
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met)	rs778289599	0.00001
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs)	rs1385885533	0.00001
NM_001386140.1(MTTP):c.1949del (p.Ile650fs)	rs1725952378	0.00001
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys)	rs780978419	0.00001
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp)	rs121918223	0.00001
NM_018062.4(FANCL):c.2T>C (p.Met1Thr)	rs761291501	0.00001
NM_032444.4(SLX4):c.1441C>T (p.Arg481Ter)	rs1265030199	0.00001
NC_000003.11:g.(10132070_10133864)_(10136048_10136883)del
NC_000003.11:g.(?_10068070)_(10070406_10074515)del
NC_000003.11:g.(?_10068070)_(10094182_10101977)del
NC_000004.11:g.(100521891_100522763)_(100534298_100540130)del
NC_000009.11:g.(97864133_97869347)_(97869552_97873744)del
NC_000009.11:g.(97873920_97876910)_(97879673_97887367)del
NC_000009.11:g.(97873920_97876910)_(97934430_98002930)dup
NC_000014.8:g.(74764773_74766250)_(74769768_?)del
NC_000016.9:g.(89831475_89833548)_(89883066_?)del
NC_000016.9:g.(89862427_89865573)_(89866047_89869666)del
NC_000016.9:g.(89866047_89869666)_(89877480_89880927)del
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs)	rs878853660
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu)	rs1060501879
NM_000135.4(FANCA):c.1352G>A (p.Trp451Ter)
NM_000135.4(FANCA):c.1459dup (p.Arg487fs)	rs2039844868
NM_000135.4(FANCA):c.1489C>T (p.Pro497Ser)	rs1057521855
NM_000135.4(FANCA):c.1567-20A>G	rs775154397
NM_000135.4(FANCA):c.1912G>T (p.Gly638Ter)	rs2143367693
NM_000135.4(FANCA):c.2664del (p.Ala889fs)
NM_000135.4(FANCA):c.3335T>G (p.Val1112Gly)	rs2038474528
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu)	rs1555536390
NM_000135.4(FANCA):c.3973del (p.Asp1325fs)	rs2151712879
NM_000135.4(FANCA):c.4258G>T (p.Glu1420Ter)	rs984285795
NM_000135.4(FANCA):c.427-3C>G	rs2040847223
NM_000136.3(FANCC):c.1155-1G>C	rs1554829575
NM_000136.3(FANCC):c.1533+1G>T	rs753885687
NM_000136.3(FANCC):c.1555dup (p.Thr519fs)	rs794726667
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter)	rs730881731
NM_000136.3(FANCC):c.377_378del (p.Arg126fs)	rs1564720637
NM_000136.3(FANCC):c.487_490del (p.Glu163fs)	rs730881708
NM_000136.3(FANCC):c.489_490del (p.Asn164fs)	rs730881708
NM_000136.3(FANCC):c.514C>T (p.Gln172Ter)
NM_000136.3(FANCC):c.996+1G>A	rs370510954
NM_000175.5(GPI):c.1269+1G>A
NM_000289.6(PFKM):c.238-3A>G
NM_000289.6(PFKM):c.626G>A (p.Gly209Asp)
NM_000324.3(RHAG):c.1108G>A (p.Gly370Arg)
NM_000518.4(HBB):c.-136C>A
NM_000518.4(HBB):c.-77_-76delAA	rs63750953
NM_000518.5(HBB):c.110_111del	rs63750205
NM_000518.5(HBB):c.19_20delinsAT (p.Glu7Met)	rs193922552
NM_000518.5(HBB):c.1A>C (p.Met1Leu)	rs34563000
NM_000518.5(HBB):c.201del (p.Val68fs)	rs193922553
NM_000518.5(HBB):c.226del (p.Leu76fs)	rs34218908
NM_000518.5(HBB):c.233_234del (p.His78fs)	rs2133588176
NM_000518.5(HBB):c.2T>A (p.Met1Lys)	rs33941849
NM_000518.5(HBB):c.315+2T>G	rs63750283
NM_000518.5(HBB):c.315+2del	rs1564874813
NM_000518.5(HBB):c.316-1G>A	rs33952266
NM_000518.5(HBB):c.316-1G>T	rs33952266
NM_000518.5(HBB):c.327C>G (p.Asn109Lys)
NM_000518.5(HBB):c.64dup (p.Asp22fs)	rs1554918165
NM_000518.5(HBB):c.92G>A (p.Arg31Lys)	rs33960103
NM_001018115.3(FANCD2):c.1252C>T (p.Gln418Ter)
NM_001018115.3(FANCD2):c.1827+1G>C	rs761074497
NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter)	rs2125032674
NM_001018115.3(FANCD2):c.3597del (p.Ala1199_Ile1200insTer)
NM_001018115.3(FANCD2):c.696-121C>G	rs2086862509
NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter)	rs1223055462
NM_001113378.2(FANCI):c.1512+1G>A	rs2151551135
NM_001113378.2(FANCI):c.295del (p.His99fs)	rs759398314
NM_001113378.2(FANCI):c.3187-2A>G
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs)	rs758597713
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs)	rs770318990
NM_001113378.2(FANCI):c.849T>A (p.Tyr283Ter)	rs760412752
NM_001386140.1(MTTP):c.307A>T (p.Lys103Ter)	rs1560614646
NM_002454.3(MTRR):c.245C>T (p.Pro82Leu)
NM_004629.2(FANCG):c.1465_1467delinsAA (p.Glu489fs)
NM_005050.4(ABCD4):c.1118+1G>A
NM_005050.4(ABCD4):c.1295G>A (p.Arg432Gln)	rs745414252
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter)	rs767795583
NM_005050.4(ABCD4):c.1597_1598del (p.Ser533fs)
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)	rs796051998
NM_015506.3(MMACHC):c.443_459delinsCTGGGGCTGG (p.Val148fs)	rs2149323805
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs)	rs1553162923
NM_015506.3(MMACHC):c.685C>T (p.Gln229Ter)
NM_015506.3(MMACHC):c.82-1G>A	rs1255179780
NM_015702.3(MMADHC):c.202del (p.Gln68fs)
NM_015702.3(MMADHC):c.372+1G>T	rs755561981
NM_015702.3(MMADHC):c.9+1G>A
NM_018062.4(FANCL):c.202C>T (p.Arg68Ter)	rs1490932431
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
NM_018062.4(FANCL):c.430del (p.Ser144fs)	rs869320685
NM_018368.4(LMBRD1):c.1128C>A (p.Tyr376Ter)
NM_018368.4(LMBRD1):c.1396_1397insTC (p.Cys466fs)	rs764930914
NM_021922.3(FANCE):c.2T>C (p.Met1Thr)	rs1462766132
NM_021922.3(FANCE):c.2_7del (p.Met1_Ala2del)	rs755938406
NM_022725.4(FANCF):c.193C>T (p.Gln65Ter)	rs753272712
NM_025215.6(PUS1):c.70_74dup (p.Ser26fs)
NM_032043.3(BRIP1):c.1473+1G>T	rs748274524
NM_032043.3(BRIP1):c.3223_3226del (p.Ser1075fs)
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs)	rs778664039
NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter)	rs45459799
NM_080669.6(SLC46A1):c.3G>A (p.Met1Ile)
NM_138477.4(CDAN1):c.152C>T (p.Pro51Leu)

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