ClinVar Miner

List of variants reported as likely pathogenic for anemia by Myriad Genetics, Inc.

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 135
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HGVS dbSNP gnomAD frequency
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NC_000011.10:g.5227159G>A rs33944208 0.00021
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465 0.00006
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099 0.00001
NM_000136.3(FANCC):c.996+1G>T rs370510954 0.00001
NM_000518.5(HBB):c.-78A>G rs33931746 0.00001
NM_000518.5(HBB):c.217dup (p.Ser73fs) rs33969853 0.00001
NM_001386140.1(MTTP):c.1099C>T (p.Gln367Ter) rs1171996547 0.00001
NM_001386140.1(MTTP):c.400G>T (p.Glu134Ter) rs760855321 0.00001
NM_000135.4(FANCA):c.1070C>A (p.Ser357Ter) rs773687142
NM_000135.4(FANCA):c.1162A>T (p.Arg388Ter) rs2040091746
NM_000135.4(FANCA):c.1222G>T (p.Glu408Ter)
NM_000135.4(FANCA):c.1450G>T (p.Glu484Ter) rs2039845162
NM_000135.4(FANCA):c.1468C>T (p.Gln490Ter) rs1266348463
NM_000135.4(FANCA):c.1585G>T (p.Gly529Ter) rs2039768709
NM_000135.4(FANCA):c.1654G>T (p.Glu552Ter)
NM_000135.4(FANCA):c.1822A>T (p.Lys608Ter) rs938278864
NM_000135.4(FANCA):c.1888G>T (p.Glu630Ter)
NM_000135.4(FANCA):c.1912G>T (p.Gly638Ter) rs2143367693
NM_000135.4(FANCA):c.1951G>T (p.Gly651Ter) rs140785340
NM_000135.4(FANCA):c.1972G>T (p.Gly658Ter)
NM_000135.4(FANCA):c.2234G>A (p.Trp745Ter) rs1338018512
NM_000135.4(FANCA):c.2472T>A (p.Cys824Ter) rs2039261844
NM_000135.4(FANCA):c.2489T>A (p.Leu830Ter) rs772477788
NM_000135.4(FANCA):c.2499C>A (p.Cys833Ter) rs2039260856
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter) rs1452688134
NM_000135.4(FANCA):c.2848G>T (p.Glu950Ter) rs2038967261
NM_000135.4(FANCA):c.2994T>G (p.Tyr998Ter)
NM_000135.4(FANCA):c.3017T>A (p.Leu1006Ter) rs2038618125
NM_000135.4(FANCA):c.301C>T (p.Gln101Ter)
NM_000135.4(FANCA):c.308C>G (p.Ser103Ter) rs147176389
NM_000135.4(FANCA):c.3133G>T (p.Glu1045Ter) rs2038519770
NM_000135.4(FANCA):c.3478C>T (p.Gln1160Ter)
NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter) rs2038398856
NM_000135.4(FANCA):c.3640G>T (p.Glu1214Ter) rs2062172011
NM_000135.4(FANCA):c.364G>T (p.Gly122Ter) rs2040857662
NM_000135.4(FANCA):c.3753C>A (p.Cys1251Ter) rs752126515
NM_000135.4(FANCA):c.424A>T (p.Arg142Ter) rs2040853392
NM_000135.4(FANCA):c.467T>A (p.Leu156Ter) rs1419169954
NM_000135.4(FANCA):c.520C>T (p.Gln174Ter) rs1454055874
NM_000135.4(FANCA):c.658C>T (p.Gln220Ter) rs775697743
NM_000135.4(FANCA):c.714dup (p.Val239fs)
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter) rs2041102320
NM_000136.3(FANCC):c.1029C>A (p.Tyr343Ter) rs2072504418
NM_000136.3(FANCC):c.1029C>G (p.Tyr343Ter)
NM_000136.3(FANCC):c.1084G>T (p.Gly362Ter) rs2072245226
NM_000136.3(FANCC):c.225T>A (p.Cys75Ter)
NM_000136.3(FANCC):c.249T>A (p.Tyr83Ter)
NM_000136.3(FANCC):c.275G>A (p.Trp92Ter) rs1830584796
NM_000136.3(FANCC):c.282_283del (p.Cys95fs)
NM_000136.3(FANCC):c.315_316insCCCG (p.Gly106fs)
NM_000136.3(FANCC):c.323C>A (p.Ser108Ter) rs1830581816
NM_000136.3(FANCC):c.353T>A (p.Leu118Ter) rs1825725461
NM_000136.3(FANCC):c.464T>A (p.Leu155Ter) rs1825652774
NM_000136.3(FANCC):c.560del (p.Cys187fs)
NM_000136.3(FANCC):c.661G>T (p.Glu221Ter) rs1830059125
NM_000136.3(FANCC):c.683dup (p.Leu228fs)
NM_000136.3(FANCC):c.793G>T (p.Glu265Ter) rs1827526425
NM_000136.3(FANCC):c.822C>A (p.Cys274Ter)
NM_000289.6(PFKM):c.1145G>A (p.Trp382Ter)
NM_000289.6(PFKM):c.1199C>A (p.Ser400Ter)
NM_000289.6(PFKM):c.1227_1228del (p.Ala410fs)
NM_000289.6(PFKM):c.1321G>T (p.Glu441Ter)
NM_000289.6(PFKM):c.1358G>A (p.Trp453Ter)
NM_000289.6(PFKM):c.1385_1386insTCCTGCTATAG (p.Gln462fs)
NM_000289.6(PFKM):c.1459A>T (p.Lys487Ter)
NM_000289.6(PFKM):c.1493del (p.Gly498fs)
NM_000289.6(PFKM):c.1721del (p.Gly574fs)
NM_000289.6(PFKM):c.1734_1735del (p.Tyr579fs)
NM_000289.6(PFKM):c.184G>T (p.Gly62Ter)
NM_000289.6(PFKM):c.1859_1860del (p.Val620fs)
NM_000289.6(PFKM):c.1876_1877del (p.Leu626fs)
NM_000289.6(PFKM):c.1905T>A (p.Tyr635Ter)
NM_000289.6(PFKM):c.204_207delinsTG (p.Thr69fs)
NM_000289.6(PFKM):c.31dup (p.Thr11fs)
NM_000289.6(PFKM):c.399_400del (p.Ser133fs)
NM_000289.6(PFKM):c.465_466del (p.Leu156fs)
NM_000289.6(PFKM):c.582del (p.Thr195fs)
NM_000289.6(PFKM):c.631dup (p.His211fs)
NM_000289.6(PFKM):c.851_852del (p.Val284fs)
NM_000289.6(PFKM):c.867T>A (p.Tyr289Ter)
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.5(HBB):c.-137C>G rs33941377
NM_001386140.1(MTTP):c.1067T>G (p.Leu356Ter) rs1725580386
NM_001386140.1(MTTP):c.1106C>A (p.Ser369Ter)
NM_001386140.1(MTTP):c.1117G>T (p.Glu373Ter) rs1725671165
NM_001386140.1(MTTP):c.114C>A (p.Tyr38Ter)
NM_001386140.1(MTTP):c.1168del (p.Gln390fs)
NM_001386140.1(MTTP):c.1266_1267del (p.Ser422fs)
NM_001386140.1(MTTP):c.1321C>T (p.Gln441Ter) rs1486643983
NM_001386140.1(MTTP):c.1327G>T (p.Glu443Ter) rs1725702758
NM_001386140.1(MTTP):c.1367T>A (p.Leu456Ter) rs1725826321
NM_001386140.1(MTTP):c.1428_1429insGAAAAATCATA (p.Leu477fs)
NM_001386140.1(MTTP):c.1573_1574del (p.Asn525fs)
NM_001386140.1(MTTP):c.1646del (p.Asn549fs)
NM_001386140.1(MTTP):c.1705C>T (p.Gln569Ter) rs1725885571
NM_001386140.1(MTTP):c.1717A>T (p.Lys573Ter) rs1725886004
NM_001386140.1(MTTP):c.1756G>T (p.Glu586Ter)
NM_001386140.1(MTTP):c.1933A>T (p.Arg645Ter)
NM_001386140.1(MTTP):c.1940del (p.Asn647fs)
NM_001386140.1(MTTP):c.1953_1954del (p.Phe651fs)
NM_001386140.1(MTTP):c.1959C>A (p.Tyr653Ter) rs1725953201
NM_001386140.1(MTTP):c.1964_1965del (p.Gly655fs)
NM_001386140.1(MTTP):c.2021T>A (p.Leu674Ter) rs1725996321
NM_001386140.1(MTTP):c.2055delinsAGGCA (p.Asn685fs)
NM_001386140.1(MTTP):c.2097_2098del (p.Gln700fs)
NM_001386140.1(MTTP):c.2113_2114del (p.Thr705fs)
NM_001386140.1(MTTP):c.2125G>T (p.Gly709Ter) rs1726001209
NM_001386140.1(MTTP):c.2183_2184del (p.Val728fs)
NM_001386140.1(MTTP):c.2228T>A (p.Leu743Ter)
NM_001386140.1(MTTP):c.2260C>T (p.Gln754Ter) rs1726166189
NM_001386140.1(MTTP):c.2299_2300delinsA (p.Phe767fs)
NM_001386140.1(MTTP):c.22_23insCTGAA (p.Phe8fs)
NM_001386140.1(MTTP):c.275_276del (p.Val92fs)
NM_001386140.1(MTTP):c.334G>T (p.Gly112Ter)
NM_001386140.1(MTTP):c.358C>T (p.Gln120Ter) rs1725178752
NM_001386140.1(MTTP):c.363_369del (p.Arg121fs)
NM_001386140.1(MTTP):c.486_488delinsA (p.Gly163fs)
NM_001386140.1(MTTP):c.546del (p.Asp183fs)
NM_001386140.1(MTTP):c.583A>T (p.Lys195Ter) rs1725413862
NM_001386140.1(MTTP):c.674_675insATGTAGCTTTTGAA (p.Ser225delinsArgCysSerPheTer)
NM_001386140.1(MTTP):c.696_697del (p.Glu233fs)
NM_001386140.1(MTTP):c.710_711delinsGATGTGTATAAGAGACAG (p.Asn237delinsArgCysValTer)
NM_001386140.1(MTTP):c.734_742delinsAAGA (p.Thr245fs)
NM_001386140.1(MTTP):c.775A>T (p.Lys259Ter) rs1283854712
NM_001386140.1(MTTP):c.807_813del (p.Gly270fs)
NM_001386140.1(MTTP):c.808G>T (p.Gly270Ter)
NM_001386140.1(MTTP):c.903T>A (p.Cys301Ter) rs1725516307
NM_001386140.1(MTTP):c.957_963del (p.Asn319fs)
NM_015506.3(MMACHC):c.143_146del (p.Leu48fs)
NM_015506.3(MMACHC):c.51del (p.Pro18fs)
NM_015506.3(MMACHC):c.619dup (p.Asp207fs) rs765913293
NM_015506.3(MMACHC):c.70del (p.Tyr24fs)
NM_015506.3(MMACHC):c.97G>T (p.Glu33Ter)

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