ClinVar Miner

List of variants reported as pathogenic for aplastic anemia by Myriad Genetics, Inc.

Included ClinVar conditions (98):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952 0.00012
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197 0.00009
NM_000135.4(FANCA):c.1827-1G>A rs555449842 0.00005
NM_000136.3(FANCC):c.844-1G>C rs774209201 0.00001
NM_000135.4(FANCA):c.1A>C (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459

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