List of variants studied for autosomal recessive disease by Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001034852.3(SMOC1):c.223C>T (p.Arg75Ter)	rs370866589	0.00003
NM_014780.5(CUL7):c.1482G>A (p.Trp494Ter)	rs1561892336
NM_014780.5(CUL7):c.206dup (p.Met69fs)	rs1561898352
NM_014780.5(CUL7):c.3089del (p.Pro1030fs)	rs1561881909
NM_014780.5(CUL7):c.3685C>T (p.Gln1229Ter)	rs1561875767
NM_014780.5(CUL7):c.4115del (p.Glu1372fs)	rs1561873941
NM_014780.5(CUL7):c.418_419del (p.Thr140fs)	rs1764489246
NM_015311.3(OBSL1):c.1125dup (p.Glu376Ter)	rs1559155954
NM_015311.3(OBSL1):c.1187G>A (p.Arg396His)	rs1559155800
NM_015311.3(OBSL1):c.1277_1282+5del	rs760929207

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