ClinVar Miner

List of variants in gene COLQ reported as pathogenic by OMIM

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_005677.4(COLQ):c.1289A>C (p.Tyr430Ser) rs121908923 0.00005
NM_005677.4(COLQ):c.640G>T (p.Glu214Ter) rs104893733 0.00001
NM_005677.4(COLQ):c.943C>T (p.Arg315Ter) rs121908924 0.00001
NM_005677.4(COLQ):c.1082del (p.Pro361fs) rs769982050
NM_005677.4(COLQ):c.1298+3A>G rs1384843815
NM_005677.4(COLQ):c.506C>G (p.Ser169Ter) rs104893734
NM_005677.4(COLQ):c.718G>T (p.Gly240Ter) rs104893735
NM_005677.4(COLQ):c.788dup (p.Pro265fs) rs759911990
NM_005677.4(COLQ):c.844A>T (p.Arg282Ter) rs121908922
NM_005677.4:c.107_321del

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