ClinVar Miner

List of variants reported as pathogenic for partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome by OMIM

Included ClinVar conditions (3):

Congenital generalized lipodystrophy type 3; Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome; Pulmonary hypertension, primary, 3
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome; Pulmonary hypertension, primary, 3

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001753.5(CAV1):c.400del (p.Ile134fs)	rs879255578
NM_001753.5(CAV1):c.424C>T (p.Gln142Ter)	rs797045176
NM_001753.5(CAV1):c.479_480del (p.Leu159_Phe160insTer)	rs797044871

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