ClinVar Miner

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

Included ClinVar conditions (262):
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ClinVar version:
Total variants: 24
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HGVS dbSNP
NM_000059.3(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.2164_2166CTG[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.2529_2530CT[2] (p.Leu845fs)
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447
NM_000135.4(FANCA):c.3070A>G (p.Met1024Val) rs1567603987
NM_000135.4(FANCA):c.3349-1G>A rs769862233
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952
NM_001029.5(RPS26):c.55C>T (p.Gln19Ter) rs797045919
NM_001134224.1(INPP4A):c.36C>T (p.Ala12=) rs1306444586
NM_004629.1(FANCG):c.1077-2A>G rs769547477
NM_004629.1(FANCG):c.1158del (p.Ser387fs) rs757418016
NM_004629.1(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_004629.1(FANCG):c.313G>T (p.Glu105Ter) rs121434425
NM_032444.4(SLX4):c.425del (p.Gly142fs) rs757662453
NM_033084.5(FANCD2):c.3095del (p.Asn1032fs) rs1559399574
NM_033084.5(FANCD2):c.904C>T (p.Arg302Trp) rs121917787

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