ClinVar Miner

List of variants in gene COMP reported as likely benign for connective tissue disorder

Included ClinVar conditions (370):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000095.3(COMP):c.1956C>T (p.Asn652=) rs10421797 0.00834
NM_000095.3(COMP):c.2227+8G>A rs116499541 0.00363
NM_000095.3(COMP):c.2152C>A (p.Arg718=) rs28936368 0.00081
NM_000095.3(COMP):c.768C>A (p.Ala256=) rs369897902

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