ClinVar Miner

List of variants in gene COMP reported as likely pathogenic by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000095.3(COMP):c.1201G>C (p.Asp401His) rs2055169002
NM_000095.3(COMP):c.1309G>A (p.Asp437Asn) rs2055165476
NM_000095.3(COMP):c.1394G>T (p.Gly465Val) rs2145900849
NM_000095.3(COMP):c.1416_1421del (p.Asn474_Asp475del) rs2055164523
NM_000095.3(COMP):c.1445A>T (p.Asp482Val) rs2055164276
NM_000095.3(COMP):c.874T>C (p.Cys292Arg) rs2055184939
NM_000095.3(COMP):c.950A>G (p.Asp317Gly) rs1601057057
NM_000095.3(COMP):c.983G>T (p.Cys328Phe) rs2145902336

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