List of variants studied for eye degenerative disorder by Molecular Genetics, Royal Melbourne Hospital

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000520.6(HEXA):c.672+30T>G	rs117160567	0.01494
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)	rs147313927	0.00229
NM_007055.4(POLR3A):c.1734A>T (p.Lys578Asn)	rs376753355	0.00006
NM_007055.4(POLR3A):c.3350T>C (p.Ile1117Thr)	rs762055380	0.00004
NM_001376.5(DYNC1H1):c.1628C>T (p.Thr543Met)	rs780247153	0.00001
NM_007055.4(POLR3A):c.1048+5G>T	rs890755853	0.00001
NM_000153.4(GALC):c.1162-4del	rs11300320
NM_000153.4(GALC):c.1165C>G (p.His389Asp)	rs368284541
NM_000153.4(GALC):c.1896_1900del (p.Thr633fs)	rs749708827
NM_000330.4(RS1):c.52+3A>G	rs2147209764
NM_001844.5(COL2A1):c.1527+1G>C
NM_001844.5(COL2A1):c.924+2T>A
NM_001854.4(COL11A1):c.3817-13dup	rs34228277
NM_002242.4(KCNJ13):c.484C>T (p.Arg162Trp)	rs121918542
NM_002335.4(LRP5):c.34CTG[10] (p.Leu20dup)	rs72555376

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