List of variants reported as pathogenic by Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_003324.5(TULP3):c.1144C>T (p.Arg382Trp)	rs760523025	0.00002
NM_000102.4(CYP17A1):c.1050CCT[1] (p.Leu353del)	rs1590203064
NM_001127.4(AP1B1):c.1263C>A (p.Tyr421Ter)	rs2147978539
NM_001128228.3(TPRN):c.225_235del (p.Gly76fs)	rs387906221
NM_003403.5(YY1):c.690del (p.Asp231fs)	rs759536629
NM_003896.4(ST3GAL5):c.1030_1031del (p.Ile344fs)	rs2104584644
NM_006279.5(ST3GAL3):c.1068dup (p.Glu357fs)	rs1391400488
NM_006279.5(ST3GAL3):c.891+1del	rs1387140766
NM_012233.3(RAB3GAP1):c.1552C>T (p.Gln518Ter)	rs1691647986
NM_194248.3(OTOF):c.2406+4A>G	rs2148051765

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