ClinVar Miner

List of variants reported as likely pathogenic by Molecular Diagnostics Laboratory,M Health: University of Minnesota

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 160
Download table as spreadsheet
HGVS dbSNP
NC_000005.10:g.(90694702_90696936)_(90829187_90840577)del
NC_000023.11:g.(?_40052108)_(40077930_?)del
NM_000016.5(ACADM):c.797A>G (p.Asp266Gly) rs201375579
NM_000017.4(ACADS):c.596C>T (p.Ala199Val) rs766579880
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro) rs776063244
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys) rs128624215
NM_000033.4(ABCD1):c.1186G>A (p.Ala396Thr) rs1569541006
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln) rs781862879
NM_000033.4(ABCD1):c.1973C>T (p.Thr658Ile) rs1557055337
NM_000033.4(ABCD1):c.2010dup (p.Leu671fs) rs1569541207
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys) rs1569540695
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) rs1569540704
NM_000033.4(ABCD1):c.80A>C (p.Tyr27Ser) rs1569540665
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931
NM_000038.6(APC):c.1341T>A (p.Cys447Ter) rs1561545947
NM_000046.5(ARSB):c.936G>T (p.Trp312Cys) rs759384989
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala) rs1566462533
NM_000074.2(CD40LG):c.107T>G (p.Met36Arg) rs104894774
NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr) rs764100025
NM_000091.4(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451
NM_000091.4(COL4A3):c.3682G>C (p.Gly1228Arg) rs1559913871
NM_000091.4(COL4A3):c.4783G>A (p.Gly1595Arg) rs766208466
NM_000094.3(COL7A1):c.5605G>C (p.Gly1869Arg) rs1057517724
NM_000094.3(COL7A1):c.5783G>A (p.Gly1928Glu) rs1560219171
NM_000094.3(COL7A1):c.6501G>A (p.Pro2167=) rs767539005
NM_000095.3(COMP):c.1265A>C (p.Asp422Ala) rs1568554988
NM_000135.2(FANCA):c.1_2151+1del
NM_000135.2:c.523_2601del
NM_000135.2:c.894_2641del
NM_000135.4(FANCA):c.1342T>C (p.Tyr448His) rs1567635573
NM_000135.4(FANCA):c.2164_2166CTG[1] (p.Leu723del) rs1567618907
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447
NM_000135.4(FANCA):c.3070A>G (p.Met1024Val) rs1567603987
NM_000135.4(FANCA):c.3349-1G>A rs769862233
NM_000138.4(FBN1):c.6569G>T (p.Cys2190Phe) rs1566895262
NM_000140.4(FECH):c.913G>T (p.Val305Phe) rs765518889
NM_000157.4(GBA):c.1271T>C (p.Leu424Pro) rs772548282
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934
NM_000203.5(IDUA):c.390del (p.Phe130fs) rs1560545883
NM_000211.5(ITGB2):c.1959_1960insTC (p.Asn654fs) rs1568879914
NM_000212.2(ITGB3):c.325del (p.Val109fs) rs1567764064
NM_000212.2(ITGB3):c.778-2A>G rs749261962
NM_000214.3(JAG1):c.3007_3013dup (p.Ser1005Ter) rs1568791694
NM_000267.3(NF1):c.4253T>A (p.Leu1418Ter) rs1567862071
NM_000275.3(OCA2):c.1503+5G>A rs368124046
NM_000277.3(PAH):c.250G>T (p.Asp84Tyr) rs62514902
NM_000277.3(PAH):c.529G>C (p.Val177Leu) rs199475602
NM_000278.3(PAX2):c.221_226dupAGACCG (p.Thr75_Gly76insGluThr) rs387906530
NM_000312.3(PROC):c.1166G>C (p.Gly389Ala) rs1305782685
NM_000312.3(PROC):c.199G>A (p.Glu67Lys) rs1448630830
NM_000314.7(PTEN):c.1023del (p.Phe341fs) rs1564568689
NM_000314.7(PTEN):c.226del (p.Tyr76fs) rs1564828960
NM_000314.7(PTEN):c.764T>A (p.Val255Glu) rs1564566998
NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln) rs121918567
NM_000328.3(RPGR):c.1905+479del rs1569237206
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200
NM_000352.5(ABCC8):c.1243G>A (p.Gly415Arg) rs1564955779
NM_000397.3(CYBB):c.1237dup (p.Val413fs) rs1569480031
NM_000401.3(EXT2):c.337del (p.Arg113fs) rs1565196333
NM_000424.4(KRT5):c.817del (p.Phe272_Val273insTer) rs1565593355
NM_000426.3(LAMA2):c.2749+1G>A rs759555791
NM_000435.3(NOTCH3):c.1258G>T (p.Gly420Cys) rs1323608032
NM_000444.6(PHEX):c.1875T>G (p.Tyr625Ter) rs1400504292
NM_000444.6(PHEX):c.2140C>T (p.Gln714Ter) rs1569442206
NM_000478.6(ALPL):c.1142A>G (p.His381Arg) rs1558557428
NM_000494.4(COL17A1):c.3418+2del rs775244527
NM_000495.5(COL4A5):c.1480G>C (p.Gly494Arg) rs1569493662
NM_000495.5(COL4A5):c.3347G>T (p.Gly1116Val) rs281874713
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys) rs1301146300
NM_000531.6(OTC):c.961T>C (p.Ser321Pro) rs1569281354
NM_000540.2(RYR1):c.1209C>G (p.Ile403Met) rs118192116
NM_000540.2(RYR1):c.14970delG rs1568613962
NM_000548.5(TSC2):c.1835T>C (p.Leu612Pro) rs1567458244
NM_000901.5(NR3C2):c.2755C>T (p.Gln919Ter) rs1553986377
NM_001004334.2:c.1727delA rs1567725425
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_001009944.3(PKD1):c.5693dup (p.Val1899fs) rs1567195868
NM_001009944.3(PKD1):c.6916-9G>A rs1567190244
NM_001017979.3(RAB28):c.355_356del (p.Glu119fs) rs1560141393
NM_001077488.4(GNAS):c.1146_1148CAT[1] (p.Ile384del) rs1569032751
NM_001110556.2(FLNA):c.861C>G (p.Tyr287Ter) rs375503410
NM_001111125.3(IQSEC2):c.3875del (p.Pro1292fs) rs1569291627
NM_001122764.3(PPOX):c.869-3_869-2del rs1558033572
NM_001134224.1(INPP4A):c.36C>T (p.Ala12=) rs1306444586
NM_001145661.2(GATA2):c.1085G>A (p.Arg362Gln) rs867160952
NM_001145847.2(PROM1):c.1274+2T>C rs775957498
NM_001145847.2(PROM1):c.1327dup (p.Tyr443fs) rs543698823
NM_001184832.2(SLC12A1):c.2834_2873+12del rs1566857461
NM_001194998.2(CEP152):c.780del (p.Asn260fs) rs1567024512
NM_001201543.2(FAM161A):c.847C>T (p.Arg283Ter) rs748847284
NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys) rs387906653
NM_001277269.1(OTOG):c.7896G>A (p.Trp2632Ter) rs1565129771
NM_001399.5(EDA):c.161A>T (p.His54Leu) rs1569272194
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg) rs797044947
NM_001848.2(COL6A1):c.787G>T (p.Gly263Cys) rs1569517943
NM_001854.4(COL11A1):c.1862_1870del (p.Gln621_Pro623del) rs1557932876
NM_001854.4(COL11A1):c.2972G>A (p.Gly991Asp) rs1557877041
NM_002292.4(LAMB2):c.249+1G>A rs779317615
NM_002420.6(TRPM1):c.213+147T>G rs150441866
NM_002501.4(NFIX):c.834del (p.Lys279fs) rs1568318540
NM_003119.4(SPG7):c.861+1G>C rs1412575396
NM_003384.3(VRK1):c.156_160+3del rs1566696845
NM_003919.3(SGCE):c.434_442dup (p.Asn145_Ile147dup) rs1562853011
NM_003998.4(NFKB1):c.1752+1G>A rs1560711146
NM_003998.4(NFKB1):c.317dup (p.Asn106fs) rs1560679469
NM_004100.5(EYA4):c.1347C>G (p.Tyr449Ter) rs1562505728
NM_004183.4(BEST1):c.89A>G (p.Lys30Arg) rs281865218
NM_004183.4(BEST1):c.915T>G (p.Phe305Leu) rs1565036465
NM_005251.2:c.(?_1)_(1506_?)del
NM_005562.3(LAMC2):c.3454C>T (p.Gln1152Ter) rs1217053724
NM_005609.4(PYGM):c.403G>A (p.Gly135Arg) rs780246932
NM_005859.5(PURA):c.407_420dup (p.Ala142fs) rs1561793219
NM_006005.3(WFS1):c.568_570AAG[3] (p.Lys193del) rs752461187
NM_006031.6(PCNT):c.4366C>T (p.Gln1456Ter) rs1569249386
NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His) rs1555550617
NM_006642.3:c.1069_1356del
NM_006642.5(SDCCAG8):c.1575del (p.Glu526fs) rs1390963789
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276
NM_007113.3(TCHH):c.991C>T (p.Gln331Ter) rs201930497
NM_007126.5(VCP):c.283C>T (p.Arg95Cys) rs121909332
NM_014319.5(LEMD3):c.2369_2370AT[1] (p.Met791fs)
NM_014874.3(MFN2):c.653T>C (p.Leu218Pro) rs879253925
NM_014946.3(SPAST):c.1666G>A (p.Ala556Thr) rs1558341948
NM_015340.4(LARS2):c.1115C>G (p.Ser372Ter) rs1559484149
NM_015909.3:c.(?_5028)_(5724_?)del
NM_015909.4(NBAS):c.3164T>C (p.Leu1055Pro) rs796052121
NM_015915.4(ATL1):c.1511del (p.Gly504fs) rs1566735903
NM_016343.4(CENPF):c.4189_4192del (p.Asp1397fs) rs776697039
NM_016343.4(CENPF):c.7639G>T (p.Glu2547Ter) rs779120472
NM_017890.4(VPS13B):c.2889del (p.Trp963fs) rs1563700124
NM_018486.3(HDAC8):c.667C>T (p.Arg223Trp) rs1556007534
NM_020366.3(RPGRIP1):c.673del (p.His225fs) rs752263228
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His) rs1443883930
NM_020812.4(DOCK6):c.3562C>T (p.Gln1188Ter) rs372751467
NM_022124.6(CDH23):c.8061C>G (p.Tyr2687Ter) rs1564803868
NM_022455.4(NSD1):c.6366T>G (p.Phe2122Leu) rs1562305653
NM_023343.1:c.55G>A
NM_024426.6(WT1):c.1421A>C (p.His474Pro) rs1564969626
NM_024649.5(BBS1):c.1100T>A (p.Ile367Asn) rs1565286202
NM_025074.7(FRAS1):c.5370C>G (p.Tyr1790Ter) rs757311669
NM_031475.3(ESPN):c.2446G>T (p.Glu816Ter) rs1485674839
NM_032335.3(PHF6):c.65C>A (p.Ser22Ter) rs1569334260
NM_032444.4(SLX4):c.425del (p.Gly142fs) rs757662453
NM_033084.5(FANCD2):c.3095del (p.Asn1032fs) rs1559399574
NM_033084.5(FANCD2):c.904C>T (p.Arg302Trp) rs121917787
NM_033409.4(SLC52A3):c.753del (p.Val252fs) rs1568721373
NM_054012.4(ASS1):c.174+1G>T rs748264993
NM_080679.2(COL11A2):c.3814C>T (p.Arg1272Ter) rs121912950
NM_138691.2(TMC1):c.1714G>A (p.Asp572Asn) rs121908072
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508
NM_144672.4(OTOA):c.2295del (p.Thr766fs) rs774366025
NM_144997.7(FLCN):c.792del (p.Cys265fs) rs1567816339
NM_152443.3(RDH12):c.506G>A (p.Arg169Gln) rs971610277
NM_153006.3(NAGS):c.1268+2T>C rs202041339
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter) rs144948296
NM_153700.2(STRC):c.4543C>T (p.Gln1515Ter) rs756606635
NM_203446.2(SYNJ1):c.1717C>T (p.Arg573Ter) rs1569075471
NM_206933.3(USH2A):c.1859G>T (p.Cys620Phe) rs758571672

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.