ClinVar Miner

List of variants reported as pathogenic for isolated microphthalmia 6

Included ClinVar conditions (1):
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001195129.2(PRSS56):c.1795C>G (p.Pro599Ala) rs61744404 0.04318
NM_001195129.2(PRSS56):c.904G>T (p.Val302Phe) rs74703359 0.00131
NM_001195129.2(PRSS56):c.1555G>A (p.Gly519Arg) rs730882162 0.00002
NM_001195129.2(PRSS56):c.1183T>C (p.Cys395Arg) rs730882161 0.00001
NM_001195129.2(PRSS56):c.958G>A (p.Gly320Arg) rs730882158 0.00001
NM_001195129.2(PRSS56):c.1066del (p.Gln356fs) rs730882064
NM_001195129.2(PRSS56):c.1066dup (p.Gln356fs) rs730882064
NM_001195129.2(PRSS56):c.1202C>A (p.Ala401Glu) rs1418002054
NM_001195129.2(PRSS56):c.1258G>T (p.Gly420Ter)
NM_001195129.2(PRSS56):c.1573del (p.Val525fs) rs780960251
NM_001195129.2(PRSS56):c.219del (p.Arg74fs) rs1218404300
NM_001195129.2(PRSS56):c.353G>A (p.Trp118Ter) rs1430615320
NM_001195129.2(PRSS56):c.526C>G (p.Arg176Gly) rs387907096
NM_001195129.2(PRSS56):c.709G>A (p.Gly237Arg) rs730882160
NM_001195129.2(PRSS56):c.833dup (p.Val279fs) rs730882159
NM_001195129.2(PRSS56):c.849+1G>C
NM_001195129.2(PRSS56):c.849+1G>T
NM_001195129.2(PRSS56):c.896dup (p.Pro299_Arg300insTer)
NM_001195129.2(PRSS56):c.926G>C (p.Trp309Ser) rs387907095
NM_018942.3(HMX1):c.691_692dup (p.Glu232fs)

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