ClinVar Miner

List of variants in gene FANCD2 studied for Fanconi anemia complementation group D2

Included ClinVar conditions (1):
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Total variants: 14
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HGVS dbSNP
FANCD2, 376A-G rs0
FANCD2, EX17 DEL rs0
NC_000003.12:g.(10041711_10042558)_(10043865_10046579)dup rs0
NC_000003.12:g.(10048052_10049373)_(10049506_10052386)del rs0
NC_000003.12:g.(10049506_10052386)_(10052498_10060293)del rs0
NM_001018115.3(FANCD2):c.2T>C (p.Met1Thr) rs0
NM_001018115.3(FANCD2):c.3095del (p.Asn1032fs) rs1559399574
NM_001018115.3(FANCD2):c.39dup (p.Glu14fs) rs1575723664
NM_033084.5(FANCD2):c.-33-13G>A rs113338938
NM_033084.5(FANCD2):c.-6G>C rs3732974
NM_033084.5(FANCD2):c.28T>C (p.Ser10Pro) rs150075366
NM_033084.5(FANCD2):c.3105+15C>T rs460965
NM_033084.5(FANCD2):c.33G>A (p.Glu11=) rs147426418
NM_033084.5(FANCD2):c.64+12G>C rs9833228

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