ClinVar Miner

List of variants in gene POMT1 reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001077365.2(POMT1):c.1639C>T (p.Pro547Ser) rs1588482418
NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln) rs202140413
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=) rs147143094
NM_001077365.2(POMT1):c.427+8C>T rs201727519
NM_001077365.2(POMT1):c.677T>C (p.Leu226Pro) rs1554774207

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