ClinVar Miner

List of variants in gene CHM reported as likely pathogenic for Retinal dystrophy

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000390.4(CHM):c.1446del (p.Gly483fs) rs1244003380 0.00001
NM_000390.2(CHM):c.1167del rs1927017073
NM_000390.3(CHM):c.(?_-1)_(49+1_50-1)del
NM_000390.4(CHM):c.1094_1095del (p.Leu365fs) rs1929999634
NM_000390.4(CHM):c.116+1G>T rs786204761
NM_000390.4(CHM):c.1286_1287del (p.Ile428_Ser429insTer)
NM_000390.4(CHM):c.1334C>A (p.Ser445Ter)
NM_000390.4(CHM):c.1349+3A>C rs1326972655
NM_000390.4(CHM):c.1411C>T (p.Gln471Ter) rs1926202704
NM_000390.4(CHM):c.1438G>T (p.Glu480Ter)
NM_000390.4(CHM):c.1649T>C (p.Leu550Pro)
NM_000390.4(CHM):c.1770+2T>A rs1924181543
NM_000390.4(CHM):c.189+1G>C rs1931625021
NM_000390.4(CHM):c.315-1536A>G rs1555955061
NM_000390.4(CHM):c.37del (p.Ile12_Val13insTer) rs1934694621
NM_000390.4(CHM):c.49+2T>C rs1934693393
NM_000390.4(CHM):c.509del (p.Asn170fs)
NM_000390.4(CHM):c.534dup (p.Glu179fs)
NM_000390.4(CHM):c.535dup (p.Glu179fs) rs1930424797
NM_000390.4(CHM):c.586del (p.Asp195_Met196insTer) rs1930421028
NM_000390.4(CHM):c.653C>G (p.Ser218Ter) rs1930414140
NM_000390.4(CHM):c.820-1G>A rs1930090887
NM_000390.4(CHM):c.88del (p.Ser30fs)

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