List of variants studied for PRPF31-related retinopathy by OMIM

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_015629.4(PRPF31):c.1115_1125del (p.Arg372fs)	rs587776589
NM_015629.4(PRPF31):c.1374+654C>G	rs587776591
NM_015629.4(PRPF31):c.332_343del (p.His111_Ile114del)	rs1600337143
NM_015629.4(PRPF31):c.527+3A>G	rs587776590
NM_015629.4(PRPF31):c.528-39_531del	rs2146420160
NM_015629.4(PRPF31):c.548_580dup (p.Met193_Ala194insGluLeuGluArgLeuGluGluAlaCysAspMet)
NM_015629.4(PRPF31):c.581C>A (p.Ala194Glu)	rs119475043
NM_015629.4(PRPF31):c.646G>C (p.Ala216Pro)	rs119475042
NM_015629.4(PRPF31):c.770dup (p.Thr258fs)	rs1600344451

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