List of variants reported as uncertain significance for Brittle cornea syndrome 2

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_018699.4(PRDM5):c.1189-14T>C	rs375296023	0.00036
NM_018699.4(PRDM5):c.1031-15T>C	rs201474353	0.00028
NM_018699.4(PRDM5):c.248G>A (p.Arg83His)	rs201945549	0.00012
NM_018699.4(PRDM5):c.740C>T (p.Ser247Leu)	rs187637689	0.00006
NM_018699.4(PRDM5):c.1623+8T>C	rs201965676	0.00005
NM_018699.4(PRDM5):c.839A>G (p.Lys280Arg)	rs183142477	0.00004
NM_018699.4(PRDM5):c.650+5G>A	rs754469516	0.00003
NM_018699.4(PRDM5):c.650+7A>G	rs751182540	0.00001
NM_018699.4(PRDM5):c.670A>T (p.Lys224Ter)	rs1064794819	0.00001
NM_018699.4(PRDM5):c.1312G>A (p.Asp438Asn)	rs759022476
NM_018699.4(PRDM5):c.1538-5T>G	rs1744464153
NM_018699.4(PRDM5):c.44C>T (p.Ser15Phe)
NM_018699.4(PRDM5):c.475+9T>A	rs1561379470
NM_018699.4(PRDM5):c.650+7A>T	rs751182540
NM_018699.4(PRDM5):c.769C>T (p.Arg257Trp)
NM_018699.4(PRDM5):c.783G>T (p.Arg261Ser)
NM_018699.4(PRDM5):c.898T>C (p.Cys300Arg)
NM_018699.4(PRDM5):c.94-10T>G	rs886059045
NM_018699.4(PRDM5):c.946-9C>T	rs886059042

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