ClinVar Miner

List of variants studied for inherited aplastic anemia by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr) rs201212806 0.00006
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter) rs121918164 0.00005
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) rs769479800 0.00004
NM_000059.4(BRCA2):c.6929C>A (p.Thr2310Asn) rs276174886 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_018062.4(FANCL):c.1092G>A (p.Lys364=) rs577063114 0.00002
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980 0.00001
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter) rs372163487 0.00001
NM_000136.3(FANCC):c.1533+1G>C rs753885687 0.00001
NM_001113378.2(FANCI):c.2687G>C (p.Gly896Ala) rs751233975 0.00001
NM_004629.2(FANCG):c.1761-2A>C rs765150956 0.00001
NM_004629.2(FANCG):c.787C>T (p.Gln263Ter) rs149721361 0.00001
NM_018062.4(FANCL):c.2T>C (p.Met1Thr) rs761291501 0.00001
NM_000135.4(FANCA):c.2284C>A (p.Leu762Ile)
NM_000135.4(FANCA):c.2505-2A>C
NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs) rs763378933
NM_000135.4(FANCA):c.2680A>T (p.Arg894Ter)
NM_000135.4(FANCA):c.2729T>C (p.Leu910Pro)
NM_000135.4(FANCA):c.2786A>C (p.Tyr929Ser) rs2038969615
NM_000135.4(FANCA):c.284-2A>C
NM_000135.4(FANCA):c.2915del (p.Gly972fs)
NM_000135.4(FANCA):c.2982-1G>C rs1555540076
NM_000135.4(FANCA):c.2993dup (p.Tyr998Ter)
NM_000135.4(FANCA):c.3066+1G>T rs587783028
NM_000135.4(FANCA):c.3239+1dup rs766989857
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.3931_3932del (p.Glu1310_Ser1311insTer) rs1403231932
NM_000135.4(FANCA):c.3934+2T>C rs771775516
NM_000135.4(FANCA):c.4167+1G>A
NM_000135.4(FANCA):c.4167+5G>A
NM_000135.4(FANCA):c.523-1G>C
NM_000136.3(FANCC):c.70C>T (p.Gln24Ter) rs2136101386
NM_001018113.3(FANCB):c.781C>T (p.Arg261Ter) rs2147445599
NM_001022.4(RPS19):c.106A>G (p.Thr36Ala)
NM_001022.4(RPS19):c.14del (p.Thr5fs)
NM_001022.4(RPS19):c.184C>T (p.Arg62Trp) rs104894711
NM_001022.4(RPS19):c.311T>C (p.Leu104Pro)
NM_001113378.2(FANCI):c.1240C>T (p.Pro414Ser)
NM_001113378.2(FANCI):c.3854G>A (p.Arg1285Gln) rs121918163
NM_001113378.2(FANCI):c.545+1G>T
NM_004629.2(FANCG):c.1652_1655del (p.Tyr551fs) rs770263417
NM_004629.2(FANCG):c.722_734del (p.Pro241fs)
NM_005236.3(ERCC4):c.2632G>T (p.Ala878Ser)
NM_006947.4(SRP72):c.1900G>C (p.Val634Leu)
NM_006947.4(SRP72):c.308G>A (p.Ser103Asn)
NM_018062.4(FANCL):c.900dup (p.Ser301fs)
NM_020207.7(ERCC6L2):c.1948-1G>A
NM_024675.4(PALB2):c.2835-2A>G
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.106G>T (p.Glu36Ter)
NM_032444.4(SLX4):c.4921dup (p.Val1641fs) rs770425994
NM_033022.4(RPS24):c.155C>T (p.Pro52Leu)
NM_033022.4(RPS24):c.157del (p.Asp53fs) rs2131976643

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