ClinVar Miner

List of variants studied for inherited aplastic anemia by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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_000135.4(FANCA):c.3536C>G (p.Pro1179Arg) rs141422170 0.00005
NM_000135.4(FANCA):c.4056dup (p.Phe1353fs) rs1567593047
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000969.5(RPL5):c.118G>A (p.Asp40Asn) rs1553285006
NM_000969.5(RPL5):c.701A>G (p.Asp234Gly) rs576330538
NM_000975.5(RPL11):c.43_49del (p.Leu15fs) rs1553121678
NM_001011.4(RPS7):c.519T>A (p.Phe173Leu) rs1572360947
NM_004629.2(FANCG):c.84+53G>T rs1563987651

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