ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 228
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HGVS dbSNP
NC_000005.10:g.(90694702_90696936)_(90829187_90840577)del
NC_000016.10:g.(?_86567336)_(86568841_?)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_000021.4(PSEN1):c.800C>T (p.Pro267Leu) rs63750779
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.221G>T (p.Arg74Leu)
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys) rs1569540695
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr) rs782293513
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) rs1569540704
NM_000033.4(ABCD1):c.685C>G (p.Leu229Val)
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr) rs782487174
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_000041.4(APOE):c.388T>C (p.Cys130Arg) rs429358
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_000089.3(COL1A2):c.946G>A (p.Gly316Ser) rs72656392
NM_000090.4(COL3A1):c.3446G>A (p.Gly1149Asp)
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.6017G>A (p.Gly2006Asp) rs121912842
NM_000094.4(COL7A1):c.6501G>A 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.2014+1G>C rs1598116164
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del) rs1567618907
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398
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_000153.4(GALC):c.868C>T (p.Arg290Cys) rs780750448
NM_000157.4(GBA):c.1271T>C (p.Leu424Pro) rs772548282
NM_000162.5(GCK):c.622G>A (p.Ala208Thr) rs1476637197
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934
NM_000190.4(HMBS):c.364G>C (p.Ala122Pro)
NM_000203.5(IDUA):c.390del (p.Phe130fs) rs1560545883
NM_000211.5(ITGB2):c.1959_1960insTC (p.Asn654fs) rs1568879914
NM_000212.2(ITGB3):c.778-2A>G rs749261962
NM_000212.3(ITGB3):c.325del (p.Val109fs) rs1567764064
NM_000214.3(JAG1):c.3007_3013dup (p.Ser1005Ter) rs1568791694
NM_000267.3(NF1):c.4253T>A (p.Leu1418Ter) rs1567862071
NM_000271.5(NPC1):c.743G>T (p.Gly248Val)
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.764T>A (p.Val255Glu) rs1564566998
NM_000314.8(PTEN):c.1023del (p.Phe341fs) rs1564568689
NM_000314.8(PTEN):c.226del (p.Tyr76fs) rs1564828960
NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln) rs121918567
NM_000328.3(RPGR):c.1905+479del rs1569237206
NM_000328.3(RPGR):c.883C>T (p.Gln295Ter)
NM_000338.3(SLC12A1):c.2834_2873+12del rs1566857461
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200
NM_000352.6(ABCC8):c.1243G>A (p.Gly415Arg) rs1564955779
NM_000397.4(CYBB):c.1237dup (p.Val413fs) rs1569480031
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_000458.4(HNF1B):c.884G>C (p.Arg295Pro)
NM_000458.4(HNF1B):c.896G>A (p.Trp299Ter) rs1598840996
NM_000478.6(ALPL):c.1142A>G (p.His381Arg) rs1558557428
NM_000494.4(COL17A1):c.3418+2del rs775244527
NM_000496.3(CRYBB2):c.355G>A (p.Gly119Arg) rs864309698
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys) rs1301146300
NM_000516.7(GNAS):c.1143CAT[1] (p.Ile383del) rs1569032751
NM_000516.7(GNAS):c.873CAA[1] (p.Asn292del)
NM_000531.6(OTC):c.488T>A (p.Leu163Gln)
NM_000531.6(OTC):c.961T>C (p.Ser321Pro) rs1569281354
NM_000540.2(RYR1):c.14970delG rs1568613962
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met) rs118192116
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148
NM_000548.5(TSC2):c.1835T>C (p.Leu612Pro) rs1567458244
NM_000642.3(AGL):c.4259+5G>A rs780504025
NM_000642.3(AGL):c.921del (p.Asn307fs) rs1571243862
NM_000901.5(NR3C2):c.2755C>T (p.Gln919Ter) rs1553986377
NM_001004334.4(GPR179):c.1727del (p.Tyr576fs) rs1567725425
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
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_001015877.2(PHF6):c.65C>A (p.Ser22Ter) rs1569334260
NM_001017979.3(RAB28):c.355_356del (p.Glu119fs) rs1560141393
NM_001017979.3(RAB28):c.574-1238T>G rs751163782
NM_001018115.2(FANCD2):c.904C>T (p.Arg302Trp) rs121917787
NM_001018115.3(FANCD2):c.3095del (p.Asn1032fs) rs1559399574
NM_001039213.4(CEACAM16):c.1122dup (p.Ala375fs) rs1599814534
NM_001089.3(ABCA3):c.2883C>T (p.Gly961=)
NM_001089.3(ABCA3):c.4885dup (p.Ala1629fs)
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_001134225.2(INPP4A):c.36C>T (p.Ala12=) rs1306444586
NM_001145661.2(GATA2):c.1085G>A (p.Arg362Gln) rs867160952
NM_001165963.4(SCN1A):c.2867T>C (p.Met956Thr)
NM_001174147.2(LMX1B):c.353G>A (p.Cys118Tyr)
NM_001194998.2(CEP152):c.780del (p.Asn260fs) rs1567024512
NM_001195263.2(PDZD7):c.2089del (p.Ala697fs)
NM_001201543.2(FAM161A):c.847C>T (p.Arg283Ter) rs748847284
NM_001252024.2(TRPM1):c.279+147T>G rs150441866
NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys) rs387906653
NM_001258392.3(CLPB):c.221dup (p.Gly76fs)
NM_001277269.1(OTOG):c.7896G>A (p.Trp2632Ter) rs1565129771
NM_001292063.2(OTOG):c.1666C>T (p.Gln556Ter)
NM_001317778.2(SFTPC):c.444del (p.Ala149fs)
NM_001349253.2(SCN11A):c.2423C>A (p.Ala808Asp) rs483352921
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr) rs397514357
NM_001376013.1(EPB41):c.1944+1G>C rs1477424620
NM_001399.5(EDA):c.161A>T (p.His54Leu) rs1569272194
NM_001399.5(EDA):c.612_629del (p.202_204IPG[1]) rs1064793104
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.2287G>T (p.Gly763Ter)
NM_001854.4(COL11A1):c.2972G>A (p.Gly991Asp) rs1557877041
NM_001875.5(CPS1):c.1550-2A>C
NM_001875.5(CPS1):c.947+1G>A
NM_002185.5(IL7R):c.265C>T (p.Gln89Ter) rs141698985
NM_002292.4(LAMB2):c.249+1G>A rs779317615
NM_002470.4(MYH3):c.2419C>T (p.Gln807Ter) rs754050324
NM_002485.5(NBN):c.46_49del (p.Tyr16fs)
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_004444.5(EPHB4):c.2102T>G (p.Leu701Arg)
NM_004444.5(EPHB4):c.2512C>T (p.Arg838Trp) rs764827256
NM_004655.4(AXIN2):c.956+1G>A
NM_005562.3(LAMC2):c.3454C>T (p.Gln1152Ter) rs1217053724
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser) rs137852760
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.568AAG[3] (p.Lys193del) rs752461187
NM_006017.3(PROM1):c.1301+2T>C rs775957498
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006019.4(TCIRG1):c.1346_1351del (p.Leu449_Gly451delinsArg)
NM_006019.4(TCIRG1):c.1549G>A (p.Asp517Asn)
NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter)
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_012338.4(TSPAN12):c.566G>A (p.Cys189Tyr) rs1335735639
NM_014112.5(TRPS1):c.3062del (p.Gly1021fs)
NM_014319.5(LEMD3):c.2371_2372del (p.Met791fs) rs1592464882
NM_014625.3(NPHS2):c.138_142dup (p.Ser48fs) rs1057516747
NM_014727.3(KMT2B):c.4109_4110dup (p.Leu1371fs)
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_015629.4(PRPF31):c.239-2A>G rs1600334904
NM_015909.3:c.(?_5028)_(5724_?)del
NM_015909.4(NBAS):c.3164T>C (p.Leu1055Pro) rs796052121
NM_015915.5(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.11907dup (p.Ser3970fs) rs180177374
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_022489.4(INF2):c.161G>C (p.Arg54Pro)
NM_023110.3(FGFR1):c.745+2T>A
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_032043.2(BRIP1):c.1936-1G>A rs1555601204
NM_032444.4(SLX4):c.425del (p.Gly142fs) rs757662453
NM_033380.3(COL4A5):c.1480G>C (p.Gly494Arg) rs1569493662
NM_033380.3(COL4A5):c.3347G>T (p.Gly1116Val) rs281874713
NM_033409.4(SLC52A3):c.753del (p.Val252fs) rs1568721373
NM_053274.3(GLMN):c.743T>A (p.Leu248Ter)
NM_054012.4(ASS1):c.174+1G>T rs748264993
NM_080680.3(COL11A2):c.4135C>T (p.Arg1379Ter) rs121912950
NM_130837.3(OPA1):c.2142del (p.Gln714fs)
NM_138691.2(TMC1):c.1714G>A (p.Asp572Asn) rs121908072
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508
NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter) rs794727756
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_178014.4(TUBB):c.316T>G (p.Tyr106Asp)
NM_181426.2(CCDC39):c.782T>A (p.Leu261Ter)
NM_182961.4(SYNE1):c.3595G>T (p.Glu1199Ter)
NM_203446.2(SYNJ1):c.1717C>T (p.Arg573Ter) rs1569075471
NM_206933.3(USH2A):c.1859G>T (p.Cys620Phe) rs758571672
NM_206933.3(USH2A):c.647T>G (p.Val216Gly) rs1571801514
NM_207122.2(EXT2):c.238del (p.Arg80fs) rs1565196333
NR_001566.1(TERC):n.407_408delinsAA rs1553915580

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