ClinVar Miner

List of variants in gene CAV1 studied for congenital generalized lipodystrophy

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001753.5(CAV1):c.30+214A>C rs1997623 0.86226
NM_001753.5(CAV1):c.30+20C>T rs34592877 0.00070
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.202T>G (p.Phe68Val) rs752571940 0.00006
NM_001753.5(CAV1):c.45C>G (p.Thr15=) rs926719665 0.00006
NM_001753.5(CAV1):c.512G>A (p.Arg171His) rs772468332 0.00004
NM_001753.5(CAV1):c.112G>T (p.Glu38Ter) rs121434501 0.00001
NM_001753.5(CAV1):c.302G>A (p.Arg101His) rs200052661 0.00001
NM_001753.5(CAV1):c.394C>G (p.Pro132Ala) rs748608068 0.00001
NM_001753.5(CAV1):c.237_238del (p.His79fs)
NM_001753.5(CAV1):c.424C>T (p.Gln142Ter) rs797045176
NM_001753.5(CAV1):c.437G>C (p.Arg146Pro) rs762818040
NM_001753.5(CAV1):c.479_480del (p.Leu159_Phe160insTer) rs797044871

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