ClinVar Miner

List of variants studied for inherited aplastic anemia by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=) rs45439097 0.00121
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571 0.00034
NM_000136.3(FANCC):c.1000C>T (p.Arg334Trp) rs140348260 0.00004
NM_000136.3(FANCC):c.1493C>T (p.Ala498Val) rs730881725 0.00004
NM_000136.3(FANCC):c.1634A>G (p.Lys545Arg) rs571668582 0.00001
NM_032043.3(BRIP1):c.1474-3T>C rs552752779 0.00001
NM_000136.3(FANCC):c.345+4AG[2] rs755657969
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459

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