List of variants studied for autosomal recessive disease by Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001128228.3(TPRN):c.225_235del (p.Gly76fs)	rs387906221
NM_003896.4(ST3GAL5):c.1030_1031del (p.Ile344fs)	rs2104584644
NM_004526.4(MCM2):c.388C>T (p.Arg130Cys)	rs770528099
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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