ClinVar Miner

List of variants studied for Fanconi anemia complementation group U by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_005431.2(XRCC2):c.283A>G (p.Ile95Val) rs140214637 0.00016
NM_005431.2(XRCC2):c.773G>A (p.Arg258His) rs149186933 0.00004
NM_005431.2(XRCC2):c.190C>T (p.Arg64Ter) rs151110146 0.00003
NM_005431.2(XRCC2):c.440T>A (p.Ile147Asn) rs776710231 0.00002
NM_005431.2(XRCC2):c.596T>C (p.Met199Thr) rs149099078 0.00002
NM_005431.2(XRCC2):c.667T>C (p.Tyr223His) rs587780130 0.00002
NM_005431.2(XRCC2):c.181C>A (p.Leu61Ile) rs569810249 0.00001
NM_005431.2(XRCC2):c.659A>T (p.Asp220Val) rs765021741 0.00001
NM_005431.2(XRCC2):c.350dup (p.Leu117fs) rs764640893
NM_005431.2(XRCC2):c.563G>T (p.Arg188Leu)
NM_005431.2(XRCC2):c.651_652del (p.Cys217_Asp218delinsTer) rs746142129
NM_005431.2(XRCC2):c.825T>G (p.Ser275Arg) rs770438650

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