ClinVar Miner

List of variants reported as likely pathogenic for anemia (disease) by Mendelics

Included ClinVar conditions (258):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000064.3(C3):c.640C>T (p.Pro214Ser) rs794729228
NM_000136.2(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_032043.2(BRIP1):c.1936-2A>C
NM_032043.2(BRIP1):c.1941G>C (p.Trp647Cys) rs786202760
NM_032043.2(BRIP1):c.205+1delG rs1057517648
NM_032043.2(BRIP1):c.3260dupA (p.Asn1087Lysfs) rs771654971
NM_032043.2(BRIP1):c.720del (p.Lys240Asnfs)

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