List of variants studied for eye degenerative disorder by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys)	rs764552042	0.00003
NM_000153.4(GALC):c.1886G>T (p.Trp629Leu)	rs1566967736
NM_000330.4(RS1):c.215A>G (p.Glu72Gly)	rs1927823799
NM_000521.4(HEXB):c.1169+3_1169+10del	rs398123444
NM_000521.4(HEXB):c.94C>T (p.Gln32Ter)	rs1554034434
NM_001098.3(ACO2):c.1285C>T (p.Arg429Trp)	rs757438868
NM_001376.5(DYNC1H1):c.11765C>G (p.Pro3922Arg)	rs141696238
NM_001379500.1(COL18A1):c.3826_3827del (p.Trp1276fs)	rs1602667345
NM_001904.4(CTNNB1):c.1139A>T (p.Asn380Ile)	rs1553631770
NM_012193.4(FZD4):c.461A>G (p.His154Arg)	rs1334686841
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser)	rs730882246

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