ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 reported as uncertain significance for POMGNT1-Related Disorders

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Total variants: 3
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HGVS dbSNP
NM_017739.3(POMGNT1):c.1161G>T (p.Lys387Asn)
NM_017739.3(POMGNT1):c.751+1G>A rs1247668825
NM_017739.3(POMGNT1):c.927del (p.Asn310fs) rs1557674267

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