ClinVar Miner

List of variants studied for X-linked intellectual disability, Van Esch type by Center for Human Genetics,University of Leuven

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Total variants: 5
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NM_001330360.2(POLA1):c.254T>G (p.Ile85Ser) rs1569271378
NM_001330360.2(POLA1):c.346G>A (p.Gly116Arg) rs1569271892
NM_001330360.2(POLA1):c.4160C>T (p.Pro1387Leu) rs1569350993
NM_001330360.2(POLA1):c.525+1G>A rs1569277899
NM_016937.3(POLA1):c.445_507del (p.Lys149_Glu169del) rs1569277866

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