ClinVar Miner

List of variants in gene FANCD2 studied for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 91
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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.-6G>C rs3732974 0.00227
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.-33-13G>A rs113338938 0.00006
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)_(10070425_?)del
NC_000003.11:g.(?_10070342)_(10074666_?)del
NC_000003.11:g.(?_10070342)_(10085296_?)del
NC_000003.11:g.(?_10070342)_(10094191_?)del
NC_000003.11:g.(?_10070342)_(10094201_?)del
NC_000003.11:g.(?_10070342)_(10109021_?)del
NC_000003.11:g.(?_10074510)_(10085282_?)del
NC_000003.11:g.(?_10080953)_(10085558_?)del
NC_000003.11:g.(?_10083287)_(10085296_?)del
NC_000003.11:g.(?_10083287)_(10085568_?)del
NC_000003.11:g.(?_10084223)_(10094201_?)del
NC_000003.11:g.(?_10084233)_(10085286_?)del
NC_000003.11:g.(?_10084233)_(10085558_?)dup
NC_000003.11:g.(?_10094051)_(10109021_?)dup
NC_000003.11:g.(?_10105456)_(10107198_?)del
NC_000003.11:g.(?_10105466)_(10107188_?)del
NC_000003.11:g.(?_10108063)_(10114567_?)del
NC_000003.11:g.(?_10114535)_(10115066_?)del
NC_000003.11:g.(?_10114535)_(10119901_?)del
NC_000003.12:g.(10028722_10032831)_(10049506_10052386)del
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
NC_000003.12:g.(?_10028648)_(10043874_?)dup
NM_001018115.1:c.1414_1545del
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.2977-2A>G rs1206160345
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.2T>C (p.Met1Thr) rs2086516483
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.3095del (p.Asn1032fs) rs1559399574
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.39dup (p.Glu14fs) rs1575723664
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

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