List of variants reported as pathogenic by Medical Genetics Laboratory, Tarbiat Modares University

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)	rs775059063	0.00004
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)	rs281865118	0.00002
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)	rs750732115	0.00002
NM_017739.4(POMGNT1):c.386G>A (p.Arg129Gln)	rs770188918	0.00001
NM_022095.4(ZNF335):c.3346G>A (p.Gly1116Arg)	rs780393773	0.00001
NM_003907.3(EIF2B5):c.2009T>C (p.Phe670Ser)	rs1713781736
NM_006438.5(COLEC10):c.128_129del (p.Thr43fs)	rs749987061
NM_014363.6(SACS):c.10813A>T (p.Lys3605Ter)	rs1360298758
NM_014363.6(SACS):c.3281dup (p.Asn1094fs)	rs2137636957
NM_014363.6(SACS):c.3427C>T (p.Gln1143Ter)	rs144267558
NM_014363.6(SACS):c.8132C>A (p.Ser2711Ter)	rs1213203489
NM_014363.6(SACS):c.9866C>G (p.Ser3289Ter)	rs2137580127
NM_018367.7(ACER3):c.566G>A (p.Trp189Ter)	rs1949342923
NM_020247.5(COQ8A):c.814G>T (p.Gly272Cys)	rs1659735679
NM_022041.4(GAN):c.1162del (p.Glu387_Leu388insTer)	rs1910760503
NM_144772.3(NAXE):c.565G>A (p.Gly189Ser)	rs1677398842

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