List of variants reported as pathogenic for X-linked intellectual disability, Van Esch type

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Total variants: 5

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HGVS	dbSNP
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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