ClinVar Miner

List of variants studied for anemia by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

Included ClinVar conditions (292):
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ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952 0.00012
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_000135.4(FANCA):c.3349-1G>A rs769862233 0.00004
NM_004629.2(FANCG):c.1077-2A>G rs769547477 0.00002
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447 0.00001
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp) rs121917787 0.00001
NM_001376013.1(EPB41):c.1944+1G>C rs1477424620 0.00001
NM_004629.2(FANCG):c.313G>T (p.Glu105Ter) rs121434425 0.00001
NM_000059.4(BRCA2):c.5453C>A (p.Ser1818Ter) rs1566232471
NM_000135.2(FANCA):c.1_2151+1del
NM_000135.2:c.523_2601del
NM_000135.2:c.894_2641del
NM_000135.4(FANCA):c.1342T>C (p.Tyr448His) rs1567635573
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter) rs753980264
NM_000135.4(FANCA):c.1979T>C (p.Leu660Pro) rs1567621042
NM_000135.4(FANCA):c.2014+1G>C rs1598116164
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del) rs1567618907
NM_000135.4(FANCA):c.2317-2A>G rs1567618264
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) rs1247378731
NM_000135.4(FANCA):c.2533_2536del (p.Leu845fs) rs763378933
NM_000135.4(FANCA):c.3070A>G (p.Met1024Val) rs1567603987
NM_001018115.3(FANCD2):c.3095del (p.Asn1032fs) rs1559399574
NM_001022.4(RPS19):c.98G>A (p.Trp33Ter) rs104894716
NM_001029.5(RPS26):c.55C>T (p.Gln19Ter) rs797045919
NM_004629.2(FANCG):c.1158del (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_032444.4(SLX4):c.425del (p.Gly142fs) rs757662453

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