ClinVar Miner

List of variants in gene PARN reported as pathogenic for aplastic anemia

Included ClinVar conditions (107):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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NM_002582.4(PARN):c.1045C>T (p.Arg349Trp) rs754368658
NM_002582.4(PARN):c.1124_1133del (p.Gln375fs)
NM_002582.4(PARN):c.1148C>T (p.Ala383Val) rs786200999
NM_002582.4(PARN):c.1257dup (p.Asn420Ter) rs942538351
NM_002582.4(PARN):c.24del (p.Phe8fs) rs1555512179
NM_002582.4(PARN):c.272A>G (p.Tyr91Cys) rs201765587
NM_002582.4(PARN):c.563dup (p.Glu189fs) rs878853260
NM_002582.4(PARN):c.657G>A (p.Trp219Ter)
NM_002582.4(PARN):c.659+4_659+7del rs759131762
NM_002582.4(PARN):c.819_820insTAGAAATCATTTCTAGAGTC (p.Ile274Ter)
NM_002582.4(PARN):c.863dup (p.Asn288fs) rs786201001
NM_002582.4(PARN):c.918+1G>T rs756132866
NM_002582.4(PARN):c.948_949del (p.Val318fs)

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