ClinVar Miner

List of variants studied for acquired metabolic disease

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 252
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015937.6(PIGT):c.1620T>C (p.Tyr540=) rs707577 0.76713
NM_015937.6(PIGT):c.1400+48T>C rs2741566 0.73775
NM_015937.6(PIGT):c.1371G>A (p.Thr457=) rs13217 0.38173
NM_032737.4(LMNB2):c.704G>A (p.Arg235Gln) rs121912497 0.01005
NM_015937.6(PIGT):c.969C>T (p.Thr323=) rs116312756 0.00428
NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp) rs72660870 0.00129
NM_206937.2(LIG4):c.691C>T (p.Pro231Ser) rs3093765 0.00048
NM_002641.4(PIGA):c.525T>C (p.Leu175=) rs61751426 0.00026
NM_206937.2(LIG4):c.712A>G (p.Ile238Val) rs149012859 0.00019
NM_032737.4(LMNB2):c.265-6C>T rs267607650 0.00015
NM_206937.2(LIG4):c.1705A>G (p.Met569Val) rs774699419 0.00011
NM_015937.6(PIGT):c.634C>T (p.His212Tyr) rs574183358 0.00009
NM_032737.4(LMNB2):c.1279G>A (p.Ala427Thr) rs57521499 0.00007
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter) rs104894419 0.00007
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) rs121913502 0.00006
NM_206937.2(LIG4):c.1882C>T (p.Arg628Trp) rs755708095 0.00005
NM_206937.2(LIG4):c.381G>C (p.Met127Ile) rs61752350 0.00005
NM_005475.3(SH2B3):c.1087C>T (p.Pro363Ser) rs1029296641 0.00003
NM_015937.6(PIGT):c.949A>G (p.Ile317Val) rs773624614 0.00003
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_002641.4(PIGA):c.849-19C>T rs780237513 0.00002
NM_003511.3(H2AC16):c.44C>G (p.Ala15Gly) rs890521687 0.00002
NM_000374.5(UROD):c.932A>G (p.Tyr311Cys) rs121918061 0.00001
NM_000546.6(TP53):c.395A>G (p.Lys132Arg) rs1057519996 0.00001
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) rs730882005 0.00001
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr) rs863224451 0.00001
NM_000546.6(TP53):c.841G>A (p.Asp281Asn) rs764146326 0.00001
NM_001378414.1(HDAC4):c.1580C>T (p.Pro527Leu) rs372078034 0.00001
NM_002468.5(MYD88):c.755T>C (p.Leu252Pro) rs387907272 0.00001
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237 0.00001
NM_004380.3(CREBBP):c.5188A>G (p.Ile1730Val) rs1159294530 0.00001
NM_005027.4(PIK3R2):c.850G>A (p.Val284Met) rs1212577459 0.00001
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) rs121913499 0.00001
NM_005896.4(IDH1):c.395G>A (p.Arg132His) rs121913500 0.00001
NM_206937.2(LIG4):c.1242A>C (p.Val414=) rs150828164 0.00001
NM_206937.2(LIG4):c.2422T>C (p.Ser808Pro) rs1284344984 0.00001
NM_206937.2(LIG4):c.524T>C (p.Ile175Thr) rs373262036 0.00001
NM_206937.2(LIG4):c.560T>C (p.Ile187Thr) rs199854013 0.00001
FGFR3, FGFR3/IGH FUSION
LMNB2, TYR232HIS
NC_000004.12:g.104314621_104314622insG rs1578264146
NM_000051.4(ATM):c.5005G>A (p.Glu1669Lys) rs1591693095
NM_000075.4(CDK4):c.70C>A (p.Arg24Ser) rs11547328
NM_000075.4(CDK4):c.70C>T (p.Arg24Cys) rs11547328
NM_000075.4(CDK4):c.71G>A (p.Arg24His) rs104894340
NM_000075.4(CDK4):c.71G>T (p.Arg24Leu) rs104894340
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000465.4(BARD1):c.1946_1966del (p.Glu649_Glu655del) rs1574706907
NM_000546.6(TP53):c.216dup (p.Val73fs) rs730882018
NM_000546.6(TP53):c.394A>C (p.Lys132Gln) rs747342068
NM_000546.6(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.6(TP53):c.395A>C (p.Lys132Thr) rs1057519996
NM_000546.6(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_000546.6(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_000546.6(TP53):c.421T>A (p.Cys141Ser) rs1057519978
NM_000546.6(TP53):c.421T>C (p.Cys141Arg) rs1057519978
NM_000546.6(TP53):c.421T>G (p.Cys141Gly) rs1057519978
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_000546.6(TP53):c.422G>T (p.Cys141Phe) rs587781288
NM_000546.6(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.6(TP53):c.451C>G (p.Pro151Ala) rs28934874
NM_000546.6(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.6(TP53):c.452C>A (p.Pro151His) rs1057520000
NM_000546.6(TP53):c.452C>G (p.Pro151Arg) rs1057520000
NM_000546.6(TP53):c.583A>T (p.Ile195Phe) rs942158624
NM_000546.6(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.6(TP53):c.584T>G (p.Ile195Ser) rs760043106
NM_000546.6(TP53):c.585C>G (p.Ile195Met) rs1057519994
NM_000546.6(TP53):c.587G>C (p.Arg196Pro) rs483352697
NM_000546.6(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_000546.6(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_000546.6(TP53):c.614A>C (p.Tyr205Ser) rs1057520007
NM_000546.6(TP53):c.614A>G (p.Tyr205Cys) rs1057520007
NM_000546.6(TP53):c.614A>T (p.Tyr205Phe) rs1057520007
NM_000546.6(TP53):c.712T>C (p.Cys238Arg) rs1057519981
NM_000546.6(TP53):c.712T>G (p.Cys238Gly) rs1057519981
NM_000546.6(TP53):c.713G>C (p.Cys238Ser) rs730882005
NM_000546.6(TP53):c.713G>T (p.Cys238Phe) rs730882005
NM_000546.6(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.743G>C (p.Arg248Pro) rs11540652
NM_000546.6(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.6(TP53):c.814G>A (p.Val272Met) rs121912657
NM_000546.6(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_000546.6(TP53):c.815T>A (p.Val272Glu) rs876660333
NM_000546.6(TP53):c.815T>G (p.Val272Gly) rs876660333
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.6(TP53):c.823T>C (p.Cys275Arg) rs1057519983
NM_000546.6(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_000546.6(TP53):c.824G>T (p.Cys275Phe) rs863224451
NM_000546.6(TP53):c.832C>A (p.Pro278Thr) rs17849781
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_000546.6(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_000546.6(TP53):c.833C>A (p.Pro278His) rs876659802
NM_000546.6(TP53):c.833C>G (p.Pro278Arg) rs876659802
NM_000546.6(TP53):c.833C>T (p.Pro278Leu) rs876659802
NM_000546.6(TP53):c.841G>C (p.Asp281His) rs764146326
NM_000546.6(TP53):c.841G>T (p.Asp281Tyr) rs764146326
NM_000546.6(TP53):c.842A>C (p.Asp281Ala) rs587781525
NM_000546.6(TP53):c.842A>G (p.Asp281Gly) rs587781525
NM_000546.6(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_000546.6(TP53):c.843C>G (p.Asp281Glu) rs1057519984
NM_001033910.3(TRAF5):c.1254_1257del (p.Glu419fs) rs756183569
NM_001042492.3(NF1):c.5476C>A (p.His1826Asn) rs1135402871
NM_001079668.3(NKX2-1):c.436G>A (p.Ala146Thr) rs1594406727
NM_001127208.3(TET2):c.1438C>T (p.Pro480Ser) rs1578673280
NM_001130145.3(YAP1):c.488C>G (p.Ser163Cys) rs1591100766
NM_001136139.4(TCF3):c.1693G>A (p.Ala565Thr) rs1599413207
NM_001143676.3(SGK1):c.1379A>G (p.Asn460Ser) rs1171390403
NM_001287491.2(TET3):c.2362G>A (p.Glu788Lys) rs751524927
NM_001378743.1(CYLD):c.2040dup (p.Asp681fs) rs1597073318
NM_001379451.1(BCORL1):c.2242C>T (p.Gln748Ter) rs1603113792
NM_001400225.1(MGA):c.3733G>C (p.Glu1245Gln) rs1595889508
NM_001412.4(EIF1AX):c.295G>A (p.Glu99Lys) rs1603415028
NM_002168.4(IDH2):c.418C>T (p.Arg140Trp) rs267606870
NM_002168.4(IDH2):c.419G>T (p.Arg140Leu) rs121913502
NM_002185.5(IL7R):c.205C>G (p.Leu69Val) rs1580851879
NM_002447.4(MST1R):c.1477G>T (p.Asp493Tyr) rs1575446356
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) rs11554290
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu) rs11554290
NM_002524.5(NRAS):c.183A>T (p.Gln61His) rs121913255
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) rs121913250
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) rs121913250
NM_002524.5(NRAS):c.34G>T (p.Gly12Cys) rs121913250
NM_002524.5(NRAS):c.35G>C (p.Gly12Ala) rs121913237
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) rs121913237
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002524.5(NRAS):c.38G>T (p.Gly13Val) rs121434596
NM_002641.4(PIGA):c.1048C>T (p.Pro350Ser) rs372966902
NM_002641.4(PIGA):c.109A>G (p.Met37Val) rs2147724073
NM_002641.4(PIGA):c.1115del (p.Pro372fs) rs587776725
NM_002641.4(PIGA):c.1139del (p.Ile380fs)
NM_002641.4(PIGA):c.1188+1G>A rs2147717286
NM_002641.4(PIGA):c.1188+1G>C
NM_002641.4(PIGA):c.1188+2del rs587776723
NM_002641.4(PIGA):c.1281_1282del (p.Phe428fs)
NM_002641.4(PIGA):c.1323_1324del (p.Leu442fs) rs587776728
NM_002641.4(PIGA):c.1355A>T (p.Asp452Val) rs1921817445
NM_002641.4(PIGA):c.1355_1356insAATTGAGATGGATGACTCCAGATTCTATCATTGA (p.Asp452delinsGluIleGluMetAspAspSerArgPheTyrHisTer) rs786200912
NM_002641.4(PIGA):c.142G>A (p.Gly48Ser)
NM_002641.4(PIGA):c.145G>A (p.Val49Met) rs1569180100
NM_002641.4(PIGA):c.151_187del (p.Ser51fs)
NM_002641.4(PIGA):c.163C>T (p.Gln55Ter) rs199422233
NM_002641.4(PIGA):c.167T>C (p.Leu56Pro)
NM_002641.4(PIGA):c.196_206del (p.Lys66fs)
NM_002641.4(PIGA):c.248T>C (p.Leu83Pro) rs1569180063
NM_002641.4(PIGA):c.249_250insGT (p.Thr84fs) rs587776726
NM_002641.4(PIGA):c.294C>A (p.Tyr98Ter) rs199422232
NM_002641.4(PIGA):c.329dup (p.Pro111fs)
NM_002641.4(PIGA):c.350T>C (p.Phe117Ser) rs2147723760
NM_002641.4(PIGA):c.368C>T (p.Thr123Met) rs1555945480
NM_002641.4(PIGA):c.431del (p.Thr144fs) rs587776727
NM_002641.4(PIGA):c.459_460insA (p.His154fs) rs587776724
NM_002641.4(PIGA):c.986T>C (p.Val329Ala) rs1921924356
NM_002834.5(PTPN11):c.1508G>T (p.Gly503Val) rs397507546
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala) rs121918465
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly) rs121918465
NM_002892.4(ARID4A):c.2614G>T (p.Glu872Ter) rs1594966387
NM_002957.6(RXRA):c.671G>A (p.Ser224Asn) rs1588299621
NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter) rs1057517992
NM_003514.2(H2AC17):c.364G>A (p.Glu122Lys) rs1581495906
NM_003529.3(H3C1):c.400G>C (p.Glu134Gln) rs764264135
NM_004048.4(B2M):c.1A>G (p.Met1Val) rs1023835002
NM_004048.4(B2M):c.1A>T (p.Met1Leu) rs1023835002
NM_004048.4(B2M):c.2T>C (p.Met1Thr) rs1057519879
NM_004048.4(B2M):c.2T>G (p.Met1Arg) rs1057519879
NM_004048.4(B2M):c.3G>A (p.Met1Ile) rs1057519877
NM_004119.3(FLT3):c.1714T>C (p.Tyr572His) rs1208575764
NM_004187.5(KDM5C):c.67G>T (p.Glu23Ter) rs1602247047
NM_004260.4(RECQL4):c.3136G>A (p.Glu1046Lys) rs771349728
NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu) rs121913351
NM_004333.6(BRAF):c.1397G>C (p.Gly466Ala) rs121913351
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) rs121913351
NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) rs121913357
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala) rs121913355
NM_004333.6(BRAF):c.1406G>T (p.Gly469Val) rs121913355
NM_004333.6(BRAF):c.1741A>C (p.Asn581His) rs180177040
NM_004333.6(BRAF):c.1742A>C (p.Asn581Thr) rs121913370
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser) rs121913370
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) rs397516896
NM_004333.6(BRAF):c.1780G>C (p.Asp594His) rs397516896
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) rs121913338
NM_004333.6(BRAF):c.1786G>A (p.Gly596Ser) rs121913361
NM_004333.6(BRAF):c.1786G>C (p.Gly596Arg) rs121913361
NM_004333.6(BRAF):c.1787G>A (p.Gly596Asp) rs397507483
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004333.6(BRAF):c.1790T>A (p.Leu597Gln) rs121913366
NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg) rs121913366
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004656.4(BAP1):c.1787G>C (p.Ser596Thr) rs1478603808
NM_004690.4(LATS1):c.2449G>A (p.Glu817Lys) rs1582867955
NM_004985.5(KRAS):c.182A>T (p.Gln61Leu) rs121913240
NM_004985.5(KRAS):c.183A>T (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala) rs121913529
NM_005027.4(PIK3R2):c.572C>A (p.Ser191Ter) rs1418268495
NM_005245.4(FAT1):c.2668G>A (p.Glu890Lys) rs1579484570
NM_005245.4(FAT1):c.720G>A (p.Met240Ile) rs1579491104
NM_005321.3(H1-4):c.133A>C (p.Thr45Pro) rs951047896
NM_005343.4(HRAS):c.181C>G (p.Gln61Glu) rs28933406
NM_005343.4(HRAS):c.182A>C (p.Gln61Pro) rs121913233
NM_005343.4(HRAS):c.182A>T (p.Gln61Leu) rs121913233
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>C (p.Gly13Ala) rs104894226
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_005343.4(HRAS):c.436G>A (p.Ala146Thr) rs104894231
NM_005343.4(HRAS):c.436G>C (p.Ala146Pro) rs104894231
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_005896.4(IDH1):c.394C>A (p.Arg132Ser) rs121913499
NM_005896.4(IDH1):c.394C>G (p.Arg132Gly) rs121913499
NM_005896.4(IDH1):c.395G>T (p.Arg132Leu) rs121913500
NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu) rs1057519933
NM_006218.4(PIK3CA):c.332A>G (p.Lys111Arg) rs1057519935
NM_006218.4(PIK3CA):c.333G>C (p.Lys111Asn) rs1057519934
NM_006312.6(NCOR2):c.5909C>A (p.Ser1970Tyr) rs1593107841
NM_006494.4(ERF):c.228G>A (p.Met76Ile) rs1599824091
NM_014953.5(DIS3):c.2335A>T (p.Ile779Phe) rs1593835248
NM_015474.4(SAMHD1):c.259G>C (p.Glu87Gln) rs1600394490
NM_015937.6(PIGT):c.1072G>A (p.Val358Met) rs370184382
NM_015937.6(PIGT):c.1401-2A>G rs587777028
NM_015937.6(PIGT):c.197del (p.Tyr66fs) rs1555876283
NM_015937.6(PIGT):c.594+36dup rs3092108
NM_015937.6(PIGT):c.602T>C (p.Leu201Pro) rs1555876854
NM_015937.6(PIGT):c.767_770del (p.Lys256fs) rs776974834
NM_016302.4(CRBN):c.1100A>T (p.Asn367Ile) rs1575079076
NM_022552.5(DNMT3A):c.7G>T (p.Ala3Ser) rs745380962
NM_033360.4(KRAS):c.351A>C (p.Lys117Asn) rs770248150
NM_033360.4(KRAS):c.436G>C (p.Ala146Pro) rs121913527
NM_078626.3(CDKN2C):c.230C>A (p.Ala77Glu) rs746646631
NM_170606.3(KMT2C):c.9137T>C (p.Leu3046Pro) rs1003155450
NM_170606.3(KMT2C):c.9181C>G (p.Gln3061Glu) rs1587941402
NM_178129.5(P2RY8):c.869C>G (p.Pro290Arg) rs1603452612
NM_198437.3(AURKA):c.1038C>A (p.Phe346Leu) rs1455074519
NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs) rs772226399
NM_206937.2(LIG4):c.1704_1705delinsCG (p.Met569Val) rs1878367870
NM_206937.2(LIG4):c.2356G>A (p.Glu786Lys) rs200756045
NR_001566.1(TERC):n.-100C>G rs199422256

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.