ClinVar Miner

List of variants in gene combination FANCD2, FANCD2OS reported as pathogenic for bone development disease

Included ClinVar conditions (614):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter) rs745930696 0.00002
NM_001018115.3(FANCD2):c.3299_3300del (p.Gln1100fs) rs770686014 0.00001
NM_001018115.3(FANCD2):c.3481C>T (p.Gln1161Ter) rs369022159 0.00001
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His) rs121917786 0.00001
NM_001018115.3(FANCD2):c.3777+1G>T rs1434069831 0.00001
NM_001018115.3(FANCD2):c.3799del (p.Tyr1267fs) rs775517107 0.00001
NM_001018115.3(FANCD2):c.3888+2T>G rs1419879344 0.00001
NC_000003.11:g.(?_10070342)_(10140634_?)del
NC_000003.11:g.(?_10127476)_(10136978_?)del
NC_000003.11:g.(?_10130113)_(10133956_?)del
NM_001018115.3(FANCD2):c.3156_3157insGGAC (p.Gln1053fs)
NM_001018115.3(FANCD2):c.3187_3194del (p.Gln1063fs) rs2125060144
NM_001018115.3(FANCD2):c.3242del (p.Pro1081fs)
NM_001018115.3(FANCD2):c.3250C>T (p.Gln1084Ter)
NM_001018115.3(FANCD2):c.3271del (p.Leu1091fs)
NM_001018115.3(FANCD2):c.3289C>T (p.Arg1097Ter)
NM_001018115.3(FANCD2):c.3294del (p.Lys1099fs)
NM_001018115.3(FANCD2):c.3385C>T (p.Gln1129Ter) rs2125072527
NM_001018115.3(FANCD2):c.3453_3456del (p.Asn1151fs) rs1559403654
NM_001018115.3(FANCD2):c.3500G>A (p.Trp1167Ter) rs2125076610
NM_001018115.3(FANCD2):c.3501G>A (p.Trp1167Ter)
NM_001018115.3(FANCD2):c.3501del (p.Trp1167fs)
NM_001018115.3(FANCD2):c.3502_3503insT (p.Pro1168fs)
NM_001018115.3(FANCD2):c.3541C>T (p.Gln1181Ter) rs1694376599
NM_001018115.3(FANCD2):c.3599del (p.Ile1200fs) rs1694404041
NM_001018115.3(FANCD2):c.3693del (p.Phe1231fs)
NM_001018115.3(FANCD2):c.3706C>A (p.Arg1236Ser) rs771078251
NM_001018115.3(FANCD2):c.3752del (p.Pro1251fs)
NM_001018115.3(FANCD2):c.3803G>A (p.Trp1268Ter) rs757499508
NM_001018115.3(FANCD2):c.3902_3903del (p.Phe1301fs)
NM_001018115.3(FANCD2):c.3922C>T (p.Gln1308Ter) rs148471911
NM_001018115.3(FANCD2):c.3998T>A (p.Leu1333Ter)
NM_001018115.3(FANCD2):c.4063C>T (p.Gln1355Ter)
NM_001018115.3(FANCD2):c.4090del (p.Leu1364fs)
NM_001018115.3(FANCD2):c.4140T>A (p.Cys1380Ter) rs954149471

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