ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 7
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NM_017739.3(POMGNT1):c.1142A>G (p.Asn381Ser) rs140846775
NM_017739.3(POMGNT1):c.1284+9G>C rs565797493
NM_017739.3(POMGNT1):c.1285-6C>T rs377292905
NM_017739.3(POMGNT1):c.1456C>G (p.Arg486Gly) rs534543454
NM_017739.3(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066
NM_017739.3(POMGNT1):c.1783A>G (p.Lys595Glu) rs797045896
NM_017739.3(POMGNT1):c.440G>A (p.Arg147His) rs776165339

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