ClinVar Miner

List of variants reported as pathogenic for Fanconi anemia, complementation group D2 by Leiden Open Variation Database

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Total variants: 32
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HGVS dbSNP
NC_000003.12:g.(10041711_10042558)_(10043865_10046579)dup
NC_000003.12:g.(10048052_10049373)_(10049506_10052386)del
NC_000003.12:g.(10049506_10052386)_(10052498_10060293)del
NM_001018115.3(FANCD2):c.1092G>A (p.Trp364Ter)
NM_001018115.3(FANCD2):c.1321_1322del (p.Ser441fs)
NM_001018115.3(FANCD2):c.1370T>C (p.Leu457Pro)
NM_001018115.3(FANCD2):c.1414-69_1545+258del
NM_001018115.3(FANCD2):c.1948-16T>G
NM_001018115.3(FANCD2):c.1948-6C>A
NM_001018115.3(FANCD2):c.206-2A>T
NM_001018115.3(FANCD2):c.2404C>T (p.Gln802Ter)
NM_001018115.3(FANCD2):c.2661del (p.Glu888fs)
NM_001018115.3(FANCD2):c.2715+1G>A rs201811817
NM_001018115.3(FANCD2):c.2775_2776delinsTT (p.Arg926Ter)
NM_001018115.3(FANCD2):c.2835dup (p.Asp947fs)
NM_001018115.3(FANCD2):c.2T>C (p.Met1Thr)
NM_001018115.3(FANCD2):c.3453_3456del (p.Asn1151fs)
NM_001018115.3(FANCD2):c.3599del (p.Ile1200fs)
NM_001018115.3(FANCD2):c.3706C>A (p.Arg1236Ser)
NM_001018115.3(FANCD2):c.376A>G (p.Ser126Gly)
NM_001018115.3(FANCD2):c.3803G>A (p.Trp1268Ter)
NM_001018115.3(FANCD2):c.692T>G (p.Leu231Arg)
NM_001018115.3(FANCD2):c.696-121C>G
NM_001018115.3(FANCD2):c.696-2A>T
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met)
NM_001018115.3(FANCD2):c.810GTC[1] (p.Ser272del)
NM_033084.5(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247
NM_033084.5(FANCD2):c.2444G>A (p.Arg815Gln) rs766567785
NM_033084.5(FANCD2):c.757C>T (p.Arg253Ter) rs374328858
NM_033084.5(FANCD2):c.904C>T (p.Arg302Trp) rs121917787
NM_033084.5(FANCD2):c.958C>T (p.Gln320Ter) rs121917788
NM_173472.2(FANCD2OS):c.44-8784C>T rs121917786

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