ClinVar Miner

List of variants studied for brittle cornea syndrome 2

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_018699.4(PRDM5):c.744-38C>T rs2136998 0.38181
NM_018699.4(PRDM5):c.1283-5C>T rs185134294 0.00213
NM_018699.4(PRDM5):c.743+14G>A rs185567213 0.00038
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.1282+9C>T rs79915407 0.00011
NM_018699.4(PRDM5):c.300+17C>T rs376707809 0.00008
NM_018699.4(PRDM5):c.740C>T (p.Ser247Leu) rs187637689 0.00006
NM_018699.4(PRDM5):c.106G>A (p.Gly36Arg) rs374583073 0.00005
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.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.650+7A>G rs751182540 0.00001
NM_018699.4(PRDM5):c.670A>T (p.Lys224Ter) rs1064794819 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)
NM_018699.4(PRDM5):c.1208C>G (p.Pro403Arg) rs769647986
NM_018699.4(PRDM5):c.1312G>A (p.Asp438Asn) rs759022476
NM_018699.4(PRDM5):c.1513dup (p.Arg505fs)
NM_018699.4(PRDM5):c.1538-5T>G rs1744464153
NM_018699.4(PRDM5):c.1650C>A (p.Cys550Ter) rs755802156
NM_018699.4(PRDM5):c.1785_1786del (p.His595fs) rs1734381962
NM_018699.4(PRDM5):c.17T>G (p.Val6Gly) rs1725107158
NM_018699.4(PRDM5):c.1858del (p.His620fs) rs1734373037
NM_018699.4(PRDM5):c.44C>T (p.Ser15Phe)
NM_018699.4(PRDM5):c.475+2T>C
NM_018699.4(PRDM5):c.475+9T>A rs1561379470
NM_018699.4(PRDM5):c.650+7A>T rs751182540
NM_018699.4(PRDM5):c.658C>T (p.Gln220Ter)
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.93+1G>A rs1267369024
NM_018699.4(PRDM5):c.93+2T>C rs1579259095
NM_018699.4(PRDM5):c.94-10T>G rs886059045
NM_018699.4(PRDM5):c.946-9C>T rs886059042

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