ClinVar Miner

List of variants in gene COMP reported by GeneReviews

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000095.3(COMP):c.1156A>G (p.Asn386Asp) rs61739916 0.03133
NM_000095.3(COMP):c.500G>A (p.Gly167Glu) rs763887855 0.00001
NM_000095.3(COMP):c.1099_1104del (p.Arg367_Gly368del) rs2145902176
NM_000095.3(COMP):c.1153G>A (p.Asp385Asn) rs1601054715
NM_000095.3(COMP):c.1156_1158del (p.Asn386del) rs397515510
NM_000095.3(COMP):c.1405GAC[4] (p.Asp473del) rs193922900
NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup) rs193922900
NM_000095.3(COMP):c.1569C>G (p.Asn523Lys) rs137852654
NM_000095.3(COMP):c.1586C>T (p.Thr529Ile) rs312262903
NM_000095.3(COMP):c.1665C>A (p.Asn555Lys) rs397515511
NM_000095.3(COMP):c.1747G>A (p.Glu583Lys) rs312262899
NM_000095.3(COMP):c.1754C>A (p.Thr585Lys) rs312262900
NM_000095.3(COMP):c.1754C>G (p.Thr585Arg) rs312262900
NM_000095.3(COMP):c.1754C>T (p.Thr585Met) rs312262900
NM_000095.3(COMP):c.1760A>G (p.His587Arg) rs312262901
NM_000095.3(COMP):c.1813G>A (p.Asp605Asn) rs397515512
NM_000095.3(COMP):c.2042C>G (p.Ser681Cys) rs397515513
NM_000095.3(COMP):c.2152C>T (p.Arg718Trp) rs28936368
NM_000095.3(COMP):c.2153G>C (p.Arg718Pro) rs149551600
NM_000095.3(COMP):c.2155G>A (p.Gly719Ser) rs312262904
NM_000095.3(COMP):c.2156G>A (p.Gly719Asp) rs137852655

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