List of variants reported as pathogenic for Alkuraya-Kucinskas syndrome

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Total variants: 6

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HGVS	dbSNP
NM_015312.3(KIAA1109):c.10153G>C (p.Gly3385Arg)	rs1554059454
NM_015312.3(KIAA1109):c.1557T>A (p.Tyr519Ter)	rs730882245
NM_015312.3(KIAA1109):c.2902C>T (p.Arg968Cys)	rs1051597475
NM_015312.3(KIAA1109):c.3611del (p.Asn1204fs)	rs775516790
NM_015312.3(KIAA1109):c.3986A>G (p.Tyr1329Cys)	rs770791100
NM_015312.3(KIAA1109):c.5599G>A (p.Val1867Met)	rs1554025656

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