ClinVar Miner

List of variants studied for congenital generalized lipodystrophy by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_006412.4(AGPAT2):c.345C>T (p.Cys115=) rs73668354 0.01383
NM_001122955.4(BSCL2):c.1234+20G>A rs113229350 0.00638
NM_006412.4(AGPAT2):c.493-17C>A rs376439157 0.00303
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00301
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter) rs138994150 0.00103
NM_001753.5(CAV1):c.30+20C>T rs34592877 0.00070
NM_006412.4(AGPAT2):c.269G>A (p.Arg90His) rs142176861 0.00061
NM_001753.5(CAV1):c.246C>T (p.Asp82=) rs35242077 0.00045
NM_006412.4(AGPAT2):c.589-2A>G rs116807569 0.00043
NM_006412.4(AGPAT2):c.229C>T (p.Arg77Cys) rs151053652 0.00031
NM_001122955.4(BSCL2):c.624G>A (p.Ser208=) rs138532996 0.00024
NM_006412.4(AGPAT2):c.230G>A (p.Arg77His) rs375796317 0.00024
NM_006412.4(AGPAT2):c.741C>T (p.Thr247=) rs117434864 0.00024
NM_001122955.4(BSCL2):c.299G>T (p.Cys100Phe) rs147314661 0.00023
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_006412.4(AGPAT2):c.208T>G (p.Phe70Val) rs140995132 0.00019
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_006412.4(AGPAT2):c.415T>G (p.Phe139Val) rs372935354 0.00013
NM_001122955.4(BSCL2):c.1202G>A (p.Gly401Glu) rs767463971 0.00008
NM_001122955.4(BSCL2):c.88-19C>T rs760935362 0.00008
NM_006412.4(AGPAT2):c.377dup (p.Pro128fs) rs387906355 0.00008
NM_006412.4(AGPAT2):c.749G>A (p.Arg250Gln) rs368090654 0.00008
NM_001122955.4(BSCL2):c.1147G>A (p.Gly383Arg) rs772516974 0.00006
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_006412.4(AGPAT2):c.476G>T (p.Arg159Leu) rs374919945 0.00006
NM_001122955.4(BSCL2):c.1145C>T (p.Ser382Leu) rs149907021 0.00004
NM_001122955.4(BSCL2):c.1282C>T (p.Pro428Ser) rs369732238 0.00004
NM_001122955.4(BSCL2):c.359A>G (p.Tyr120Cys) rs370905417 0.00004
NM_001122955.4(BSCL2):c.934G>A (p.Val312Ile) rs754683462 0.00004
NM_001753.5(CAV1):c.512G>A (p.Arg171His) rs772468332 0.00004
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_006412.4(AGPAT2):c.788C>T (p.Pro263Leu) rs17848858 0.00004
NM_001122955.4(BSCL2):c.1168G>A (p.Glu390Lys) rs141518903 0.00003
NM_001122955.4(BSCL2):c.1235-6G>A rs762484263 0.00003
NM_001122955.4(BSCL2):c.443T>C (p.Phe148Ser) rs751277966 0.00003
NM_001122955.4(BSCL2):c.773C>T (p.Pro258Leu) rs769219167 0.00003
NM_006412.4(AGPAT2):c.748C>T (p.Arg250Trp) rs767338891 0.00003
NM_001122955.4(BSCL2):c.1034G>A (p.Arg345Gln) rs202072835 0.00002
NM_001122955.4(BSCL2):c.199A>C (p.Asn67His) rs1057524897 0.00002
NM_001122955.4(BSCL2):c.62A>T (p.Gln21Leu) rs1006065298 0.00002
NM_001122955.4(BSCL2):c.986G>A (p.Arg329Gln) rs771322168 0.00002
NM_001122955.4(BSCL2):c.1022G>A (p.Arg341Lys) rs144725547 0.00001
NM_001122955.4(BSCL2):c.1069C>T (p.Pro357Ser) rs781022347 0.00001
NM_001122955.4(BSCL2):c.1071A>G (p.Pro357=) rs113336810 0.00001
NM_001122955.4(BSCL2):c.1160A>G (p.Gln387Arg) rs779682500 0.00001
NM_001122955.4(BSCL2):c.1264C>G (p.Leu422Val) rs772442281 0.00001
NM_001122955.4(BSCL2):c.1269G>A (p.Thr423=) rs748736063 0.00001
NM_001122955.4(BSCL2):c.1298C>T (p.Ala433Val) rs141657385 0.00001
NM_001122955.4(BSCL2):c.257G>A (p.Gly86Asp) rs772832629 0.00001
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs) rs786205071 0.00001
NM_001122955.4(BSCL2):c.933C>T (p.Ser311=) rs748195771 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_006412.4(AGPAT2):c.190G>A (p.Gly64Ser) rs552941425 0.00001
NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter) rs104894093 0.00001
NM_006412.4(AGPAT2):c.493-3C>T rs764555217 0.00001
NM_006412.4(AGPAT2):c.604G>A (p.Val202Met) rs372408400 0.00001
NM_006412.4(AGPAT2):c.662-2A>C rs1131691791 0.00001
NM_001122955.4(BSCL2):c.1097C>G (p.Thr366Ser) rs1424325463
NM_001122955.4(BSCL2):c.1244C>T (p.Ser415Phe) rs1590868109
NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1]) rs747175358
NM_001122955.4(BSCL2):c.1299TTCTGC[3] (p.434SA[3]) rs747175358
NM_001122955.4(BSCL2):c.1300T>G (p.Ser434Ala) rs199584887
NM_001122955.4(BSCL2):c.1385C>A (p.Ser462Tyr) rs1945271930
NM_001122955.4(BSCL2):c.367A>T (p.Thr123Ser) rs1349958377
NM_001122955.4(BSCL2):c.405-21TCC[2] rs768556778
NM_001122955.4(BSCL2):c.487-20A>T rs115756273
NM_001122955.4(BSCL2):c.630G>A (p.Ser210=) rs150158560
NM_001122955.4(BSCL2):c.806A>G (p.Lys269Arg) rs781217574
NM_001122955.4(BSCL2):c.968G>T (p.Trp323Leu) rs367783346
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs) rs749890533
NM_001753.5(CAV1):c.437G>C (p.Arg146Pro) rs762818040
NM_006412.4(AGPAT2):c.*79C>G rs112657922
NM_006412.4(AGPAT2):c.-18C>A rs369999417
NM_006412.4(AGPAT2):c.223G>C (p.Gly75Arg) rs556809277
NM_006412.4(AGPAT2):c.269G>C (p.Arg90Pro) rs142176861
NM_006412.4(AGPAT2):c.361C>G (p.Arg121Gly) rs369878933
NM_006412.4(AGPAT2):c.514G>A (p.Glu172Lys) rs748157664

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