ClinVar Miner

List of variants in gene IFIH1 reported as likely pathogenic for Moyamoya syndrome

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_022168.4(IFIH1):c.1517T>A (p.Ile506Asn) rs1320095792
NM_022168.4(IFIH1):c.2936T>G (p.Leu979Trp) rs1553696482
NM_022168.4(IFIH1):c.716dup (p.Met240Hisfs)

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