ClinVar Miner

List of variants studied for inherited aplastic anemia by 3billion, Medical Genetics

Included ClinVar conditions (79):
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_021922.3(FANCE):c.-100C>T rs374493565 0.00013
NM_032444.4(SLX4):c.*98A>G rs551538592 0.00005
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu) rs182657062 0.00001
NM_032444.4(SLX4):c.4618G>A (p.Glu1540Lys) rs769950582 0.00001
NM_000135.4(FANCA):c.2150dup (p.Met717fs)
NM_000135.4(FANCA):c.2499C>A (p.Cys833Ter) rs2039260856
NM_000135.4(FANCA):c.2852+1del
NM_000135.4(FANCA):c.2853-15_2856del rs1285346388
NM_000135.4(FANCA):c.4010+2T>C rs2062067746
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
NM_000969.5(RPL5):c.175_176del (p.Asp59fs) rs1571024430
NM_000969.5(RPL5):c.189+1G>C
NM_000969.5(RPL5):c.509del (p.Gly170fs)
NM_000969.5(RPL5):c.613dup (p.Ala205fs) rs2100688414
NM_000975.5(RPL11):c.124C>T (p.Gln42Ter)
NM_000975.5(RPL11):c.223C>T (p.Arg75Ter) rs121434389
NM_001018113.3(FANCB):c.195dup (p.Thr66fs) rs1602006627
NM_001018115.3(FANCD2):c.3337C>T (p.Gln1113Ter)
NM_001022.4(RPS19):c.1A>G (p.Met1Val) rs2123255913
NM_001022.4(RPS19):c.296_297del (p.Val99fs) rs1555841356
NM_001022.4(RPS19):c.71del (p.Lys24fs)
NM_004629.2(FANCG):c.552dup (p.Ser185fs) rs1412207017
NM_018062.4(FANCL):c.1_22dup (p.Leu8fs)

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