ClinVar Miner

List of variants reported as likely pathogenic for aplastic anemia by Leiden Open Variation Database

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_000135.4(FANCA):c.3031C>T (p.Arg1011Cys) rs142377616 0.00006
NM_000135.4(FANCA):c.1683_1689del (p.Gly562fs) rs2039643136
NM_000135.4(FANCA):c.1A>C (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.3240-2A>G rs2038478110
NM_000135.4(FANCA):c.4010+1G>A rs2062067810
NM_000135.4(FANCA):c.4285_4288dup (p.Pro1430fs) rs2049528619
NM_004629.2(FANCG):c.1359del (p.Ala454fs) rs1829066243
NM_006296.7(VRK2):c.*102_*105dup rs759217526

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