List of variants reported as pathogenic for Alkuraya-Kucinskas syndrome

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001384125.1(BLTP1):c.3986A>G (p.Tyr1329Cys)	rs770791100	0.00006
NM_001384125.1(BLTP1):c.3263del (p.His1088fs)	rs1245182875	0.00001
NM_001384125.1(BLTP1):c.10153G>C (p.Gly3385Arg)	rs1554059454
NM_001384125.1(BLTP1):c.11514-1G>A	rs2150047294
NM_001384125.1(BLTP1):c.12331G>T (p.Glu4111Ter)	rs1787740370
NM_001384125.1(BLTP1):c.12997G>A (p.Ala4333Thr)
NM_001384125.1(BLTP1):c.1557T>A (p.Tyr519Ter)	rs730882245
NM_001384125.1(BLTP1):c.2902C>T (p.Arg968Cys)	rs1051597475
NM_001384125.1(BLTP1):c.3611del (p.Asn1204fs)	rs775516790
NM_001384125.1(BLTP1):c.3925C>T (p.Arg1309Ter)
NM_001384125.1(BLTP1):c.4287dup (p.Arg1430Ter)	rs2148690880
NM_001384125.1(BLTP1):c.5599G>A (p.Val1867Met)	rs1554025656
NM_001384125.1(BLTP1):c.8740C>T (p.Arg2914Ter)
NM_001384125.1(BLTP1):c.9370_9371dup (p.Val3124_Ile3125insTer)	rs2149413101

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