ClinVar Miner

List of variants in gene COMP studied for Inborn genetic diseases

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000095.3(COMP):c.396C>G (p.Asn132Lys) rs200638121 0.00047
NM_000095.3(COMP):c.1496G>T (p.Gly499Val) rs554998204 0.00016
NM_000095.3(COMP):c.11A>C (p.Asp4Ala) rs370458957 0.00007
NM_000095.3(COMP):c.1979C>G (p.Thr660Arg) rs150534218 0.00007
NM_000095.3(COMP):c.477C>G (p.Ser159Arg) rs780957814 0.00004
NM_000095.3(COMP):c.1136G>A (p.Arg379Gln) rs762207370 0.00001
NM_000095.3(COMP):c.1331C>G (p.Ser444Cys) rs747106682 0.00001
NM_000095.3(COMP):c.1054C>T (p.Arg352Trp)
NM_000095.3(COMP):c.1097G>A (p.Gly366Asp)
NM_000095.3(COMP):c.1196A>T (p.Asp399Val) rs2145901343
NM_000095.3(COMP):c.1217C>T (p.Ala406Val)
NM_000095.3(COMP):c.1247C>A (p.Pro416Gln) rs764546396
NM_000095.3(COMP):c.1483G>A (p.Ala495Thr)
NM_000095.3(COMP):c.1518C>A (p.Asp506Glu)
NM_000095.3(COMP):c.1593C>G (p.Phe531Leu)
NM_000095.3(COMP):c.1738G>C (p.Val580Leu)
NM_000095.3(COMP):c.1775C>G (p.Thr592Arg)
NM_000095.3(COMP):c.1829A>G (p.Tyr610Cys) rs753297721
NM_000095.3(COMP):c.1888G>A (p.Val630Met)
NM_000095.3(COMP):c.1988A>T (p.Gln663Leu) rs141708238
NM_000095.3(COMP):c.2032G>A (p.Asp678Asn)
NM_000095.3(COMP):c.268C>G (p.His90Asp)
NM_000095.3(COMP):c.644G>A (p.Gly215Asp)
NM_000095.3(COMP):c.786C>G (p.Asn262Lys)
NM_000095.3(COMP):c.920G>A (p.Gly307Asp)
NM_000095.3(COMP):c.958G>A (p.Gly320Arg)

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