ClinVar Miner

List of variants in gene PARN reported as pathogenic for anemia (disease)

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_002582.3(PARN):c.962+295_1263-8706del
NM_002582.3(PARN):c.[659+4_659+7delAGTA(;)863dupA]
NM_002582.4(PARN):c.1045C>T (p.Arg349Trp) rs754368658
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.563dup (p.Glu189fs) rs878853260
NM_002582.4(PARN):c.659+4_659+7del rs759131762
NM_002582.4(PARN):c.863dup (p.Asn288fs) rs786201001
NM_002582.4(PARN):c.918+1G>T rs756132866

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