ClinVar Miner

List of variants in gene SSR4 studied for congenital disorder of glycosylation type I

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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NM_006280.3(SSR4):c.187-301_352-15del rs1557072752
NM_006280.3(SSR4):c.317del (p.Phe106fs) rs606231298
NM_006280.3(SSR4):c.356_357AG[1] (p.Arg120fs) rs794729223
NM_006280.3(SSR4):c.417+1G>A rs1057518735
NM_006280.3(SSR4):c.418-1G>A rs1057518736

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