ClinVar Miner

List of variants in gene FANCD2 studied for Fanconi anemia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 69
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001018115.3(FANCD2):c.64+12G>C rs9833228 0.02661
NM_001018115.3(FANCD2):c.3105+15C>T rs460965 0.00770
NM_001018115.3(FANCD2):c.33G>A (p.Glu11=) rs147426418 0.00031
NM_001018115.3(FANCD2):c.28T>C (p.Ser10Pro) rs150075366 0.00009
NM_001018115.3(FANCD2):c.2984G>A (p.Gly995Glu) rs1479681259 0.00004
NM_001018115.3(FANCD2):c.3047T>A (p.Val1016Asp) rs767860064 0.00003
NM_001018115.3(FANCD2):c.2986A>G (p.Ser996Gly) rs745373058 0.00002
NM_001018115.3(FANCD2):c.2989C>T (p.Arg997Trp) rs587778330 0.00001
NM_001018115.3(FANCD2):c.2990G>A (p.Arg997Gln) rs587778331 0.00001
NM_001018115.3(FANCD2):c.3012C>G (p.Leu1004=) rs773625038 0.00001
NM_001018115.3(FANCD2):c.38A>G (p.Lys13Arg) rs756078235 0.00001
NM_001018115.3(FANCD2):c.58G>A (p.Ala20Thr) rs1338392055 0.00001
NC_000003.11:g.(?_10068070)_(10070406_10074515)del
NC_000003.11:g.(?_10068070)_(10094182_10101977)del
NC_000003.11:g.(?_10070342)_(10074666_?)del
NC_000003.11:g.(?_10070342)_(10094191_?)del
NC_000003.11:g.(?_10074510)_(10085282_?)del
NC_000003.11:g.(?_10080953)_(10085558_?)del
NC_000003.11:g.(?_10084233)_(10085286_?)del
NC_000003.11:g.(?_10084233)_(10085558_?)dup
NC_000003.11:g.(?_10105466)_(10107188_?)del
NC_000003.11:g.(?_10108063)_(10114567_?)del
NC_000003.12:g.(?_10028648)_(10043874_?)dup
NM_001018115.3(FANCD2):c.19C>T (p.Leu7=)
NM_001018115.3(FANCD2):c.2977-13G>T
NM_001018115.3(FANCD2):c.2977-14T>A rs2125059347
NM_001018115.3(FANCD2):c.2977-17C>G
NM_001018115.3(FANCD2):c.2977-17C>T
NM_001018115.3(FANCD2):c.2977-18A>C
NM_001018115.3(FANCD2):c.2977-4A>G
NM_001018115.3(FANCD2):c.2977-7A>G
NM_001018115.3(FANCD2):c.2978A>G (p.Asn993Ser)
NM_001018115.3(FANCD2):c.2979C>T (p.Asn993=)
NM_001018115.3(FANCD2):c.2985A>T (p.Gly995=) rs1575823725
NM_001018115.3(FANCD2):c.2988C>A (p.Ser996Arg)
NM_001018115.3(FANCD2):c.2992A>T (p.Asn998Tyr)
NM_001018115.3(FANCD2):c.2995A>G (p.Ile999Val)
NM_001018115.3(FANCD2):c.3005C>T (p.Ser1002Leu)
NM_001018115.3(FANCD2):c.3012C>T (p.Leu1004=)
NM_001018115.3(FANCD2):c.3014A>G (p.Gln1005Arg) rs964376104
NM_001018115.3(FANCD2):c.3015A>G (p.Gln1005=)
NM_001018115.3(FANCD2):c.3019A>T (p.Arg1007Ter)
NM_001018115.3(FANCD2):c.3020G>T (p.Arg1007Ile) rs901861823
NM_001018115.3(FANCD2):c.3021A>G (p.Arg1007=)
NM_001018115.3(FANCD2):c.3024T>C (p.Ser1008=)
NM_001018115.3(FANCD2):c.3024del (p.Ala1009fs)
NM_001018115.3(FANCD2):c.3034dup (p.Ile1012fs)
NM_001018115.3(FANCD2):c.3039T>A (p.Val1013=)
NM_001018115.3(FANCD2):c.3043T>C (p.Cys1015Arg) rs2125059575
NM_001018115.3(FANCD2):c.3044del (p.Cys1015fs)
NM_001018115.3(FANCD2):c.3048T>G (p.Val1016=)
NM_001018115.3(FANCD2):c.3049T>G (p.Phe1017Val)
NM_001018115.3(FANCD2):c.3051T>A (p.Phe1017Leu)
NM_001018115.3(FANCD2):c.3075C>A (p.Asn1025Lys)
NM_001018115.3(FANCD2):c.3103C>T (p.Gln1035Ter)
NM_001018115.3(FANCD2):c.3105+12A>G
NM_001018115.3(FANCD2):c.35A>T (p.Asp12Val) rs2086517367
NM_001018115.3(FANCD2):c.38_39del (p.Lys13fs)
NM_001018115.3(FANCD2):c.44G>C (p.Ser15Thr)
NM_001018115.3(FANCD2):c.45C>T (p.Ser15=)
NM_001018115.3(FANCD2):c.60C>T (p.Ala20=)
NM_001018115.3(FANCD2):c.62C>G (p.Ser21Cys)
NM_001018115.3(FANCD2):c.64+10T>G
NM_001018115.3(FANCD2):c.64+1_64+2del rs777719596
NM_001018115.3(FANCD2):c.64+2T>G rs2124961184
NM_001018115.3(FANCD2):c.64+7A>G
NM_001018115.3(FANCD2):c.64+8T>C
NM_001018115.3(FANCD2):c.64+8_64+11del
NM_033084.4(FANCD2):c.-33-?_1098+?del

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.