ClinVar Miner

List of variants in gene CAV1 reported as likely benign for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001753.5(CAV1):c.463G>A (p.Val155Ile) rs150368249 0.00057
NM_001753.5(CAV1):c.246C>T (p.Asp82=) rs35242077 0.00045
NM_001753.5(CAV1):c.129C>T (p.Asp43=) rs201261029 0.00014
NM_001753.5(CAV1):c.357C>T (p.Phe119=) rs201302545 0.00014
NM_001753.5(CAV1):c.500T>C (p.Phe167Ser) rs201966419 0.00011
NM_001753.5(CAV1):c.448A>G (p.Ile150Val) rs140936491 0.00010
NM_001753.5(CAV1):c.285G>A (p.Thr95=) rs200894208 0.00006
NM_001753.5(CAV1):c.45C>G (p.Thr15=) rs926719665 0.00006
NM_001753.5(CAV1):c.507T>C (p.Asn169=) rs745369527 0.00005
NM_001753.5(CAV1):c.258G>A (p.Lys86=) rs769140669 0.00004
NM_001753.5(CAV1):c.28G>T (p.Glu10Ter) rs370105972 0.00004
NM_001753.5(CAV1):c.533T>A (p.Ile178Lys) rs774239970 0.00003
NM_001753.5(CAV1):c.72C>A (p.Ile24=) rs753184173 0.00003
NM_001753.5(CAV1):c.426G>A (p.Gln142=) rs1184444704 0.00001
NM_001753.5(CAV1):c.12C>A (p.Gly4=) rs2115921305
NM_001753.5(CAV1):c.196-6T>C
NM_001753.5(CAV1):c.219A>G (p.Ala73=)
NM_001753.5(CAV1):c.30+13G>A
NM_001753.5(CAV1):c.30+15G>C
NM_001753.5(CAV1):c.30+15G>T
NM_001753.5(CAV1):c.30+19G>A
NM_001753.5(CAV1):c.318C>T (p.Leu106=)
NM_001753.5(CAV1):c.330G>A (p.Pro110=)
NM_001753.5(CAV1):c.437G>C (p.Arg146Pro) rs762818040
NM_001753.5(CAV1):c.447C>A (p.Ser149=) rs2116117219
NM_001753.5(CAV1):c.45C>T (p.Thr15=)
NM_001753.5(CAV1):c.525G>A (p.Gln175=)
NM_001753.5(CAV1):c.57G>A (p.Arg19=)

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