ClinVar Miner

List of variants reported as uncertain significance for Fanconi anemia complementation group E by Baylor Genetics

Included ClinVar conditions (1):
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_021922.3(FANCE):c.284A>G (p.Gln95Arg) rs149097636 0.00098
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser) rs141551053 0.00043
NM_021922.3(FANCE):c.206G>A (p.Arg69Gln) rs758238449 0.00026
NM_021922.3(FANCE):c.53C>T (p.Pro18Leu) rs991748781 0.00025
NM_021922.3(FANCE):c.1610G>T (p.Ter537Leu) rs139547269 0.00020
NM_021922.3(FANCE):c.1141C>T (p.Arg381Cys) rs371020401 0.00014
NM_021922.3(FANCE):c.960T>A (p.Ser320Arg) rs201528578 0.00004
NM_021922.3(FANCE):c.104C>T (p.Ala35Val) rs570498238 0.00001
NM_021922.3(FANCE):c.662G>A (p.Arg221Gln) rs777849670 0.00001
NM_021922.3(FANCE):c.1394C>T (p.Thr465Ile) rs1767643426
NM_021922.3(FANCE):c.266G>A (p.Arg89Gln) rs45600543

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