List of variants reported as pathogenic for autosomal recessive disease by Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.20A>T (p.Glu7Val)	rs334	0.01298
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter)	rs200988634	0.00927
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)	rs28940579	0.00147
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)	rs5030857	0.00057
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	rs137852944	0.00048
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	rs61752717	0.00012
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)	rs28940578	0.00006
NM_000232.5(SGCB):c.622-1G>C	rs2109370093
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)	rs28940580
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)	rs28940580
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)	rs61732874
NM_001378615.1(CC2D2A):c.650del (p.Gly217fs)	rs746415983
NM_004004.6(GJB2):c.235del (p.Leu79fs)	rs80338943
NM_004004.6(GJB2):c.313_326del (p.Lys105fs)	rs111033253
NM_005807.6(PRG4):c.1320dup (p.Lys441fs)	rs1557943002
NM_005807.6(PRG4):c.3254_3260dup (p.Val1088fs)	rs769917456

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