ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 reported as pathogenic by Invitae

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Total variants: 3
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HGVS dbSNP
NM_017739.3(POMGNT1):c.1335delC (p.Met446Cysfs) rs1553163206
NM_017739.3(POMGNT1):c.1539+1G>A rs138642840
NM_017739.3(POMGNT1):c.636C>T (p.Phe212=) rs190057175

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