ClinVar Miner

List of variants reported as likely benign for Epiphyseal dysplasia, multiple, 2

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001852.4(COL9A2):c.976C>T (p.Gln326Ter) rs12077871 0.04036
NM_001852.4(COL9A2):c.1041C>T (p.Gly347=) rs138882727 0.00110
NM_001852.4(COL9A2):c.-43G>A rs373454857 0.00062
NM_001852.4(COL9A2):c.304-14C>T rs180908956 0.00054
NM_001852.4(COL9A2):c.927T>G (p.Asp309Glu) rs200290031 0.00046
NM_001852.4(COL9A2):c.2058C>T (p.Ile686=) rs115675008 0.00034
NM_001852.4(COL9A2):c.1162-3C>T rs368209124 0.00031
NM_001852.4(COL9A2):c.1824A>G (p.Glu608=) rs138949427 0.00030
NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg) rs373264436 0.00025
NM_001852.4(COL9A2):c.1834G>A (p.Gly612Arg) rs142151614 0.00022
NM_001852.4(COL9A2):c.*561A>G rs138560646 0.00016
NM_001852.4(COL9A2):c.2036G>A (p.Arg679His) rs199897562 0.00011
NM_001852.4(COL9A2):c.185C>T (p.Pro62Leu) rs767523458 0.00007
NM_001852.4(COL9A2):c.1123C>G (p.Arg375Gly) rs375476174 0.00006
NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu) rs201847956 0.00006
NM_001852.4(COL9A2):c.230A>C (p.Asp77Ala) rs200737977 0.00005
NM_001852.4(COL9A2):c.847-9G>A rs201625720 0.00005
NM_001852.4(COL9A2):c.905C>T (p.Pro302Leu) rs369110014 0.00003
NM_001852.4(COL9A2):c.1162-7A>G rs557381059
NM_001852.4(COL9A2):c.1323+14C>A rs568467832
NM_001852.4(COL9A2):c.1753G>T (p.Val585Leu) rs202153520

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