ClinVar Miner

List of variants studied for aplastic anemia by Knight Diagnostic Laboratories, Oregon Health and Sciences University

Included ClinVar conditions (98):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_020207.7(ERCC6L2):c.19C>T (p.Gln7Ter) rs778926161 0.00031
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721 0.00004
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter) rs1484087361
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_001018115.3(FANCD2):c.3962G>C (p.Arg1321Pro) rs147205530
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
Single allele

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