List of variants reported as uncertain significance for anemia by Neuberg Centre For Genomic Medicine, NCGM

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 97

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HGVS	dbSNP	gnomAD frequency
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)	rs116100695	0.00270
NM_003126.4(SPTA1):c.5081G>A (p.Arg1694His)	rs201822255	0.00018
NM_003126.4(SPTA1):c.3841C>T (p.Arg1281Cys)	rs199685020	0.00016
NM_001355436.2(SPTB):c.947C>T (p.Thr316Ile)	rs146651264	0.00015
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr)	rs201212806	0.00006
NM_001355436.2(SPTB):c.4837C>T (p.Pro1613Ser)	rs375478086	0.00004
NM_000059.4(BRCA2):c.6929C>A (p.Thr2310Asn)	rs276174886	0.00003
NM_000342.4(SLC4A1):c.713A>T (p.Glu238Val)	rs571740084	0.00003
NM_001113378.2(FANCI):c.1537A>G (p.Met513Val)	rs148780626	0.00003
NM_000059.4(BRCA2):c.3323A>C (p.Lys1108Thr)	rs765232270	0.00002
NM_001355436.2(SPTB):c.4291C>T (p.Arg1431Ter)	rs757836263	0.00002
NM_006363.6(SEC23B):c.2129C>T (p.Thr710Met)	rs752664090	0.00002
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)	rs765822392	0.00002
NM_001113378.2(FANCI):c.2687G>C (p.Gly896Ala)	rs751233975	0.00001
NM_001355436.2(SPTB):c.220C>T (p.Arg74Cys)	rs575005279	0.00001
NM_004629.2(FANCG):c.787C>T (p.Gln263Ter)	rs149721361	0.00001
NM_000032.5(ALAS2):c.272_274dup (p.Glu91_Val92insGlu)
NM_000037.4(ANK1):c.1729G>A (p.Val577Ile)
NM_000037.4(ANK1):c.2447T>A (p.Val816Asp)
NM_000037.4(ANK1):c.2855G>A (p.Arg952His)
NM_000037.4(ANK1):c.3068G>A (p.Arg1023His)
NM_000037.4(ANK1):c.3280A>G (p.Thr1094Ala)
NM_000037.4(ANK1):c.4306C>T (p.Arg1436Ter)	rs1586072383
NM_000037.4(ANK1):c.4444A>G (p.Met1482Val)	rs2150578454
NM_000037.4(ANK1):c.4538G>A (p.Gly1513Asp)
NM_000037.4(ANK1):c.5207G>T (p.Ser1736Ile)
NM_000037.4(ANK1):c.5282C>T (p.Thr1761Met)
NM_000064.4(C3):c.3635C>T (p.Thr1212Ile)
NM_000096.4(CP):c.3028G>A (p.Val1010Ile)
NM_000135.4(FANCA):c.2284C>A (p.Leu762Ile)
NM_000135.4(FANCA):c.2729T>C (p.Leu910Pro)
NM_000135.4(FANCA):c.2786A>C (p.Tyr929Ser)	rs2038969615
NM_000135.4(FANCA):c.3251G>C (p.Arg1084Pro)
NM_000135.4(FANCA):c.3342_3343insCCT (p.Ser1114_Glu1115insPro)
NM_000135.4(FANCA):c.377C>T (p.Thr126Met)	rs139160837
NM_000135.4(FANCA):c.3789_3794dup (p.Ser1264_Leu1265insPheSer)
NM_000135.4(FANCA):c.3792_3794del (p.Leu1265del)	rs2151716800
NM_000135.4(FANCA):c.4167+5G>A
NM_000175.5(GPI):c.1094C>T (p.Thr365Ile)
NM_000175.5(GPI):c.557A>G (p.Asn186Ser)
NM_000298.6(PKLR):c.1510C>T (p.Arg504Cys)
NM_000298.6(PKLR):c.692T>C (p.Ile231Thr)
NM_000342.4(SLC4A1):c.1331C>A (p.Thr444Asn)	rs754973425
NM_000342.4(SLC4A1):c.2131G>A (p.Gly711Ser)
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp)	rs121912751
NM_000375.3(UROS):c.660+4del
NM_000398.7(CYB5R3):c.440G>C (p.Gly147Ala)
NM_000398.7(CYB5R3):c.702G>T (p.Lys234Asn)
NM_000611.6(CD59):c.286_295del (p.Phe96fs)
NM_001022.4(RPS19):c.106A>G (p.Thr36Ala)
NM_001022.4(RPS19):c.311T>C (p.Leu104Pro)
NM_001040436.3(YARS2):c.514G>A (p.Asp172Asn)
NM_001063.4(TF):c.113G>A (p.Cys38Tyr)
NM_001113378.2(FANCI):c.1240C>T (p.Pro414Ser)
NM_001142864.4(PIEZO1):c.1333G>A (p.Val445Ile)	rs902069811
NM_001142864.4(PIEZO1):c.3026A>T (p.Gln1009Leu)
NM_001142864.4(PIEZO1):c.4241A>G (p.His1414Arg)
NM_001142864.4(PIEZO1):c.6412T>G (p.Cys2138Gly)
NM_001142864.4(PIEZO1):c.6439_6441del (p.Phe2147del)
NM_001142864.4(PIEZO1):c.6614A>G (p.Asn2205Ser)
NM_001142864.4(PIEZO1):c.827C>T (p.Pro276Leu)
NM_001353812.2(ATP11C):c.1520+6G>A
NM_001353812.2(ATP11C):c.2964+3A>G
NM_001355436.2(SPTB):c.1509G>C (p.Lys503Asn)
NM_001355436.2(SPTB):c.2401C>T (p.His801Tyr)
NM_001355436.2(SPTB):c.2711T>C (p.Ile904Thr)
NM_001355436.2(SPTB):c.3005G>A (p.Arg1002His)
NM_001355436.2(SPTB):c.3854A>C (p.Glu1285Ala)
NM_001355436.2(SPTB):c.4804G>A (p.Glu1602Lys)
NM_001355436.2(SPTB):c.5408del (p.Phe1803fs)
NM_001355436.2(SPTB):c.6925G>A (p.Asp2309Asn)
NM_001355436.2(SPTB):c.865C>T (p.Arg289Cys)
NM_001360016.2(G6PD):c.1090G>A (p.Glu364Lys)
NM_001376013.1(EPB41):c.2269A>G (p.Ile757Val)
NM_001376013.1(EPB41):c.415C>T (p.Leu139Phe)
NM_001724.5(BPGM):c.679C>T (p.Arg227Cys)
NM_003126.4(SPTA1):c.5019G>C (p.Leu1673Phe)
NM_003126.4(SPTA1):c.5261A>G (p.Lys1754Arg)
NM_003126.4(SPTA1):c.6221C>T (p.Ser2074Phe)
NM_005050.4(ABCD4):c.714C>G (p.Phe238Leu)
NM_006363.6(SEC23B):c.1142C>T (p.Thr381Ile)
NM_006563.5(KLF1):c.587C>T (p.Pro196Leu)
NM_006947.4(SRP72):c.1900G>C (p.Val634Leu)
NM_006947.4(SRP72):c.308G>A (p.Ser103Asn)
NM_015506.3(MMACHC):c.848del (p.Ter283TyrextTer?)	rs1553163024
NM_015702.3(MMADHC):c.702dup (p.Gly235fs)	rs1682617973
NM_017875.4(SLC25A38):c.803dup (p.Arg269fs)
NM_018368.4(LMBRD1):c.1538G>A (p.Cys513Tyr)
NM_024675.4(PALB2):c.3049G>A (p.Ala1017Thr)	rs759795184
NM_032043.3(BRIP1):c.62C>A (p.Ala21Asp)	rs1603368436
NM_032444.4(SLX4):c.4921dup (p.Val1641fs)	rs770425994
NM_033022.4(RPS24):c.155C>T (p.Pro52Leu)
NM_133459.4(CCBE1):c.2T>G (p.Met1Arg)
NM_138477.4(CDAN1):c.134T>C (p.Leu45Pro)
NM_138477.4(CDAN1):c.2185T>G (p.Leu729Val)
NM_172002.5(HSCB):c.124T>G (p.Trp42Gly)
NM_198253.3(TERT):c.2072G>A (p.Arg691His)	rs202123213

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