ClinVar Miner

List of variants in gene POLA1 studied for X-linked intellectual disability, van Esch type

Included ClinVar conditions (1):
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Total variants: 5
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HGVS dbSNP
NM_016937.3(POLA1):c.445_507del (p.Lys149_Glu169del) rs1569277866
NM_016937.4(POLA1):c.236T>G (p.Ile79Ser) rs1569271378
NM_016937.4(POLA1):c.328G>A (p.Gly110Arg) rs1569271892
NM_016937.4(POLA1):c.4142C>T (p.Pro1381Leu) rs1569350993
NM_016937.4(POLA1):c.507+1G>A rs1569277899

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