ClinVar Miner

List of variants reported as likely benign for congenital generalized lipodystrophy

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_012232.6(CAVIN1):c.*1856C>T rs9252 0.06451
NM_012232.6(CAVIN1):c.*1446G>C rs4796583 0.04533
NM_012232.6(CAVIN1):c.*347C>A rs7220527 0.01753
NM_006412.4(AGPAT2):c.345C>T (p.Cys115=) rs73668354 0.01383
NM_001122955.4(BSCL2):c.88-662C>A rs117597269 0.01291
NM_012232.6(CAVIN1):c.*703T>A rs79683345 0.01277
NM_001122955.4(BSCL2):c.1234+20G>A rs113229350 0.00638
NM_006412.4(AGPAT2):c.*236C>T rs117979028 0.00572
NM_012232.6(CAVIN1):c.*1508G>A rs117596331 0.00541
NM_006412.4(AGPAT2):c.716C>T (p.Ala239Val) rs145975461 0.00332
NM_006412.4(AGPAT2):c.493-17C>A rs376439157 0.00303
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00301
NM_012232.6(CAVIN1):c.*2048T>C rs115889684 0.00295
NM_006412.4(AGPAT2):c.*510C>T rs149296700 0.00293
NM_012232.6(CAVIN1):c.*839G>A rs181876690 0.00229
NM_006412.4(AGPAT2):c.182+8C>T rs199860398 0.00220
NM_006412.4(AGPAT2):c.*48T>C rs200614462 0.00201
NM_012232.6(CAVIN1):c.356T>A (p.Val119Asp) rs146547678 0.00201
NM_006412.4(AGPAT2):c.182+6G>A rs373540283 0.00178
NM_012232.6(CAVIN1):c.*104C>T rs532604033 0.00108
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu) rs144245125 0.00048
NM_001753.5(CAV1):c.246C>T (p.Asp82=) rs35242077 0.00045
NM_001122955.4(BSCL2):c.624G>A (p.Ser208=) rs138532996 0.00024
NM_006412.4(AGPAT2):c.741C>T (p.Thr247=) rs117434864 0.00024
NM_006412.4(AGPAT2):c.408G>A (p.Gly136=) rs145467496 0.00020
NM_006412.4(AGPAT2):c.189C>T (p.Ile63=) rs150180733 0.00019
NM_012232.6(CAVIN1):c.*10G>A rs200409122 0.00016
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser) rs3763853 0.00014
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_001122955.4(BSCL2):c.1234+7G>A rs200631909 0.00011
NM_001122955.4(BSCL2):c.939C>T (p.Ile313=) rs200300686 0.00010
NM_012232.6(CAVIN1):c.*2211G>A rs74685015 0.00009
NM_001122955.4(BSCL2):c.88-19C>T rs760935362 0.00008
NM_001753.5(CAV1):c.45C>G (p.Thr15=) rs926719665 0.00006
NM_006412.4(AGPAT2):c.662-5C>G rs199964729 0.00006
NM_006412.4(AGPAT2):c.24C>G (p.Ala8=) rs987053838 0.00004
NM_006412.4(AGPAT2):c.273C>G (p.Pro91=) rs548976674 0.00004
NM_001122955.4(BSCL2):c.1235-6G>A rs762484263 0.00003
NM_001122955.4(BSCL2):c.1269G>A (p.Thr423=) rs748736063 0.00001
NM_001122955.4(BSCL2):c.88-634G>C rs575422877 0.00001
NM_001122955.4(BSCL2):c.933C>T (p.Ser311=) rs748195771 0.00001
NM_001122955.4(BSCL2):c.1167C>T (p.Ser389=) rs17850877
NM_001122955.4(BSCL2):c.405-21TCC[2] rs768556778
NM_001122955.4(BSCL2):c.487-20A>T rs115756273
NM_001122955.4(BSCL2):c.88-663G>A rs117862461
NM_001753.5(CAV1):c.437G>C (p.Arg146Pro) rs762818040
NM_006412.4(AGPAT2):c.*102C>T rs144522710
NM_006412.4(AGPAT2):c.*212_*217dup rs145169122
NM_006412.4(AGPAT2):c.*230C>T rs190437134
NM_006412.4(AGPAT2):c.*79C>G rs112657922
NM_006412.4(AGPAT2):c.40CTG[5] (p.Leu17dup) rs745429291
NM_012232.6(CAVIN1):c.*1788C>G rs11546699
NM_012232.6(CAVIN1):c.*1912C>T rs12892
NM_012232.6(CAVIN1):c.-133C>G rs538472626

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