List of variants reported by Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg)	rs1472566324	0.00001
NM_003322.6(TULP1):c.238C>T (p.Gln80Ter)	rs1309100490	0.00001
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu)	rs142500730	0.00001
NM_000539.3(RHO):c.448G>A (p.Glu150Lys)	rs104893791
NM_001379500.1(COL18A1):c.799-6C>T
NM_006204.4(PDE6C):c.480+1del
NM_006343.3(MERTK):c.2194C>T (p.Arg732Ter)
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)	rs752059006
NM_014363.6(SACS):c.2229del (p.Phe743fs)
NM_015346.4(ZFYVE26):c.1926_1941del (p.Tyr643fs)
NM_022089.4(ATP13A2):c.1208C>A (p.Ala403Glu)	rs373349384
NM_024306.5(FA2H):c.159_176del (p.Arg53_Ile58del)	rs759947457
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter)	rs312262737

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