List of variants studied for autosomal recessive disease by Genetics Laboratory, Department of Biology, Semnan University

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_016038.4(SBDS):c.258+2T>C	rs113993993	0.00323
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)	rs147231991	0.00146
NM_000329.3(RPE65):c.170T>C (p.Phe57Ser)
NM_001195263.2(PDZD7):c.251T>C (p.Ile84Thr)	rs773193491
NM_002906.4(RDX):c.1346del (p.Ala449fs)	rs2134302220
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter)	rs113993991
NM_016239.4(MYO15A):c.10425C>A (p.Tyr3475Ter)
NM_016239.4(MYO15A):c.3474G>A (p.Trp1158Ter)
NM_016366.3(CABP2):c.490-8C>A	rs776117741
NM_080680.3(COL11A2):c.966dup (p.Thr323fs)	rs748440351

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