ClinVar Miner

List of variants in gene combination FANCD2, LOC107303338 reported as benign for DNA repair disease

Included ClinVar conditions (97):
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Gene type:
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Total variants: 30
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HGVS dbSNP
NM_033084.4(FANCD2):c.378-6_378-5del rs55973240
NM_033084.5(FANCD2):c.1122A>G (p.Val374=) rs34046352
NM_033084.5(FANCD2):c.1137G>T (p.Val379=) rs72492997
NM_033084.5(FANCD2):c.1156T>G (p.Phe386Val) rs149125003
NM_033084.5(FANCD2):c.1170C>T (p.Ser390=) rs112887807
NM_033084.5(FANCD2):c.1179T>C (p.Thr393=) rs72492998
NM_033084.5(FANCD2):c.1214A>G (p.Asn405Ser) rs73126218
NM_033084.5(FANCD2):c.1278+3_1278+5del rs375350046
NM_033084.5(FANCD2):c.1336C>G (p.Leu446Val) rs34557223
NM_033084.5(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247
NM_033084.5(FANCD2):c.1401G>A (p.Thr467=) rs12330369
NM_033084.5(FANCD2):c.1413+14T>C rs12330599
NM_033084.5(FANCD2):c.1413+3A>G rs62245508
NM_033084.5(FANCD2):c.1414-9C>T rs35557429
NM_033084.5(FANCD2):c.1509C>T (p.Asn503=) rs6785756
NM_033084.5(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204
NM_033084.5(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315
NM_033084.5(FANCD2):c.195G>C (p.Gln65His) rs36084488
NM_033084.5(FANCD2):c.205+9T>G rs34113138
NM_033084.5(FANCD2):c.2124T>C (p.Phe708=) rs9809716
NM_033084.5(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017
NM_033084.5(FANCD2):c.2148C>G (p.Thr716=) rs55856815
NM_033084.5(FANCD2):c.2484G>A (p.Lys828=) rs55980657
NM_033084.5(FANCD2):c.2702G>T (p.Gly901Val) rs35495399
NM_033084.5(FANCD2):c.2712C>T (p.Asn904=) rs35594075
NM_033084.5(FANCD2):c.2723C>T (p.Thr908Ile) rs188375397
NM_033084.5(FANCD2):c.2877A>G (p.Gln959=) rs145953386
NM_033084.5(FANCD2):c.516A>G (p.Ile172Met) rs35173688
NM_033084.5(FANCD2):c.577A>G (p.Thr193Ala) rs34936017
NM_033084.5(FANCD2):c.983G>A (p.Arg328Gln) rs35625434

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