ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 reported as likely pathogenic for not provided

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Total variants: 4
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HGVS dbSNP
NM_017739.3(POMGNT1):c.1212-3_1212-2del rs1064797111
NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869
NM_017739.3(POMGNT1):c.1463G>A (p.Arg488Gln) rs766382416
NM_017739.3(POMGNT1):c.1526A>G (p.Asn509Ser) rs1557671443

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