List of variants in gene PRDM5 reported as pathogenic for Brittle cornea syndrome 2

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_018699.4(PRDM5):c.247C>T (p.Arg83Cys)	rs761027478	0.00002
NM_018699.4(PRDM5):c.320A>G (p.Tyr107Cys)	rs387907111	0.00002
NM_018699.4(PRDM5):c.1768C>T (p.Arg590Ter)	rs387907110	0.00001
NM_018699.4(PRDM5):c.974del (p.Cys325fs)	rs766853150	0.00001
NM_018699.3(PRDM5):c.946_1623del
NM_018699.4(PRDM5):c.1036C>T (p.Arg346Ter)	rs755676779
NM_018699.4(PRDM5):c.93+1G>A	rs1267369024
NM_018699.4(PRDM5):c.93+2T>C	rs1579259095

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