List of variants studied for brittle cornea syndrome 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_018699.4(PRDM5):c.248G>A (p.Arg83His)	rs201945549	0.00012
NM_018699.4(PRDM5):c.300+17C>T	rs376707809	0.00009
NM_018699.4(PRDM5):c.740C>T (p.Ser247Leu)	rs187637689	0.00006
NM_018699.4(PRDM5):c.307G>T (p.Glu103Ter)	rs2478065345	0.00001
NM_018699.4(PRDM5):c.694C>T (p.Arg232Ter)	rs1455476600	0.00001
NM_018699.4(PRDM5):c.93+7G>A	rs777981327	0.00001
NM_018699.4(PRDM5):c.1030G>T (p.Glu344Ter)	rs2477547119
NM_018699.4(PRDM5):c.1131dup (p.Cys378fs)
NM_018699.4(PRDM5):c.1258C>T (p.Gln420Ter)
NM_018699.4(PRDM5):c.1282+1G>T
NM_018699.4(PRDM5):c.337A>G (p.Ile113Val)
NM_018699.4(PRDM5):c.644A>G (p.Gln215Arg)
NM_018699.4(PRDM5):c.69_70dup (p.Tyr24fs)
NM_018699.4(PRDM5):c.865+1G>A	rs2477938090
NM_018699.4(PRDM5):c.911_912del (p.Cys304fs)

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