ClinVar Miner

List of variants reported as pathogenic for glucose metabolism disease by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs) rs757653154 0.00022
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln) rs113994145 0.00006
NM_005327.7(HADH):c.706C>T (p.Arg236Ter) rs375717077 0.00003
NM_000507.4(FBP1):c.472C>T (p.Arg158Trp) rs766005419 0.00002
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys) rs563971993 0.00002
NM_000507.4(FBP1):c.490G>A (p.Gly164Ser) rs121918188 0.00001
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg) rs780803192 0.00001
NM_001040716.2(PC):c.1663C>T (p.Arg555Ter) rs766242199 0.00001
NM_001739.2(CA5A):c.94C>T (p.Arg32Ter) rs767402215 0.00001
NC_000004.11:g.(?_108911089)_(108911240_?)del
NC_000004.11:g.(?_108911089)_(108955513_?)del
NC_000009.11:g.(?_97355088)_(97365840_?)del
NC_000009.11:g.(?_97380030)_(97382793_?)del
NC_000009.11:g.(?_97401403)_(97401592_?)del
NC_000009.12:g.(?_94639121)_(94639330_?)del
NC_000011.9:g.(?_66618135)_(66639640_?)del
NC_000011.9:g.(?_66636306)_(66637666_?)del
NC_000016.10:g.(?_87888109)_(87891974_?)del
NC_000016.10:g.(?_87904766)_(87904924_?)del
NC_000016.9:g.(?_87636753)_(88505740_?)del
NC_000016.9:g.(?_87938372)_(87960571_?)del
NC_000016.9:g.(?_87960334)_(87970056_?)del
NC_000016.9:g.(?_87969895)_(87970056_?)del
NM_000507.4(FBP1):c.127A>T (p.Lys43Ter) rs2131509216
NM_000507.4(FBP1):c.131_132del (p.Ala44fs)
NM_000507.4(FBP1):c.282_289del (p.Leu95fs)
NM_000507.4(FBP1):c.325G>T (p.Glu109Ter)
NM_000507.4(FBP1):c.343_347del (p.Val115fs)
NM_000507.4(FBP1):c.426+1G>A rs1563983184
NM_000507.4(FBP1):c.504T>A (p.Tyr168Ter)
NM_000507.4(FBP1):c.544del (p.Val182fs) rs1827757538
NM_000507.4(FBP1):c.56dup (p.Met19fs)
NM_000507.4(FBP1):c.577G>T (p.Glu193Ter) rs1563979243
NM_000507.4(FBP1):c.611_614del (p.Lys204fs) rs761470205
NM_000507.4(FBP1):c.704del (p.Pro235fs) rs774362519
NM_000507.4(FBP1):c.723T>G (p.Tyr241Ter)
NM_000507.4(FBP1):c.740dup (p.Ser248fs)
NM_000507.4(FBP1):c.779del (p.Gly260fs) rs1554679825
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000507.4(FBP1):c.846C>A (p.Cys282Ter)
NM_000507.4(FBP1):c.860_863dup (p.Met289fs)
NM_000507.4(FBP1):c.960del (p.Ser321fs)
NM_000507.4(FBP1):c.961dup (p.Ser321fs)
NM_000507.4(FBP1):c.966del (p.Asp323fs) rs747269745
NM_000507.4(FBP1):c.986T>C (p.Leu329Pro) rs1248299502
NM_001040716.2(PC):c.1023-1G>A rs2135917561
NM_001040716.2(PC):c.1042C>T (p.Gln348Ter) rs2135917452
NM_001040716.2(PC):c.1067_1070delinsTCCACGTGGCTGAGGGCAGGCAG (p.Ser356fs) rs2135917229
NM_001040716.2(PC):c.1084del (p.Leu362fs) rs2135917031
NM_001040716.2(PC):c.1123C>T (p.Gln375Ter) rs1310884700
NM_001040716.2(PC):c.1168dup (p.Asp390fs) rs1946484568
NM_001040716.2(PC):c.1333del (p.Arg445fs)
NM_001040716.2(PC):c.1339del (p.Ala448fs)
NM_001040716.2(PC):c.1345G>T (p.Glu449Ter) rs2135903791
NM_001040716.2(PC):c.1357C>T (p.Arg453Ter) rs768514713
NM_001040716.2(PC):c.1405C>T (p.Gln469Ter)
NM_001040716.2(PC):c.1435C>T (p.Gln479Ter)
NM_001040716.2(PC):c.1465del (p.Gln489fs)
NM_001040716.2(PC):c.1639C>T (p.Arg547Ter)
NM_001040716.2(PC):c.1702_1706del (p.Thr568fs) rs2135814786
NM_001040716.2(PC):c.1828G>A (p.Ala610Thr) rs28940589
NM_001040716.2(PC):c.1918C>T (p.Gln640Ter) rs2135809396
NM_001040716.2(PC):c.2004_2005del (p.Asn669fs)
NM_001040716.2(PC):c.2114C>A (p.Ser705Ter) rs113994146
NM_001040716.2(PC):c.2156_2159del (p.Ser719fs) rs2135803326
NM_001040716.2(PC):c.2253del (p.Cys752fs)
NM_001040716.2(PC):c.2328_2329del (p.Ala778fs) rs2135800153
NM_001040716.2(PC):c.2473+2_2473+5del
NM_001040716.2(PC):c.2493_2494del (p.Val831_Phe832insTer) rs756355930
NM_001040716.2(PC):c.2581del (p.Val861fs) rs2135795582
NM_001040716.2(PC):c.2613C>A (p.Tyr871Ter)
NM_001040716.2(PC):c.2746dup (p.Asp916fs)
NM_001040716.2(PC):c.2874dup (p.Phe959fs)
NM_001040716.2(PC):c.2948dup (p.Pro984fs)
NM_001040716.2(PC):c.2953del (p.Leu985fs) rs2135790424
NM_001040716.2(PC):c.3008del (p.Thr1003fs)
NM_001040716.2(PC):c.3089del (p.Leu1030fs)
NM_001040716.2(PC):c.3102_3103dup (p.Thr1035fs)
NM_001040716.2(PC):c.3102dup (p.Thr1035fs) rs2135789146
NM_001040716.2(PC):c.3122_3126del (p.Gly1041fs)
NM_001040716.2(PC):c.3137_3138del (p.Glu1046fs)
NM_001040716.2(PC):c.3164del (p.Gly1055fs) rs2135786710
NM_001040716.2(PC):c.3170del (p.Thr1057fs)
NM_001040716.2(PC):c.3190del (p.Ala1064fs) rs2135786512
NM_001040716.2(PC):c.321+1G>T rs2135941937
NM_001040716.2(PC):c.3288+1G>A
NM_001040716.2(PC):c.3288+1G>T rs2135785399
NM_001040716.2(PC):c.3288+2T>C rs2135785388
NM_001040716.2(PC):c.3316A>T (p.Lys1106Ter)
NM_001040716.2(PC):c.3359_3362dup (p.Ile1123fs) rs1555013840
NM_001040716.2(PC):c.3362_3363del (p.Ile1121fs)
NM_001040716.2(PC):c.3377_3392del (p.Val1126fs)
NM_001040716.2(PC):c.3387del (p.Lys1130fs) rs2135783409
NM_001040716.2(PC):c.364del (p.Ser122fs)
NM_001040716.2(PC):c.366dup (p.Glu123Ter) rs2135940752
NM_001040716.2(PC):c.372_375del (p.Ala125fs) rs1565245427
NM_001040716.2(PC):c.52C>T (p.Arg18Ter) rs144583275
NM_001040716.2(PC):c.593_612del (p.Gly198fs)
NM_001040716.2(PC):c.838_844del (p.Ala280fs)
NM_001040716.2(PC):c.908del (p.Gly303fs)
NM_001040716.2(PC):c.913G>T (p.Glu305Ter) rs1487446205
NM_001739.2(CA5A):c.683G>A (p.Trp228Ter)
NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu) rs121909731
NM_005271.5(GLUD1):c.1507A>G (p.Lys503Glu) rs2133777379
NM_005271.5(GLUD1):c.1519C>T (p.His507Tyr) rs121909730
NM_005271.5(GLUD1):c.820C>T (p.Arg274Cys) rs56275071
NM_005271.5(GLUD1):c.965G>A (p.Arg322His) rs121909737
NM_005327.7(HADH):c.203dup (p.Ile70fs)
NM_005327.7(HADH):c.304_307dup (p.Ser103fs)
NM_005327.7(HADH):c.369del (p.Asn123_Leu124insTer)
NM_005327.7(HADH):c.493C>T (p.Arg165Ter)
NM_005327.7(HADH):c.516del (p.Phe172fs)
NM_005327.7(HADH):c.587del (p.Ser196fs) rs745727504
NM_005327.7(HADH):c.64del (p.Ala22fs)
NM_005327.7(HADH):c.664_668del (p.Leu222fs)

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