ClinVar Miner

List of variants reported as uncertain significance by Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

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ClinVar version:
Total variants: 214
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HGVS dbSNP gnomAD frequency
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser) rs17027133 0.00349
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217 0.00225
NM_203447.4(DOCK8):c.3460C>T (p.Arg1154Cys) rs34390308 0.00170
NM_153485.3(NUP155):c.1204G>A (p.Val402Met) rs148814027 0.00044
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) rs371412500 0.00032
NM_003331.5(TYK2):c.648G>A (p.Pro216=) rs142642403 0.00030
NM_004744.5(LRAT):c.*98C>T rs529360609 0.00010
NM_001379500.1(COL18A1):c.1825G>A (p.Ala609Thr) rs552119369 0.00009
NM_000352.6(ABCC8):c.4325A>T (p.Glu1442Val) rs562680077 0.00008
NM_002861.5(PCYT2):c.1009G>A (p.Gly337Ser) rs578101513 0.00008
NM_006984.5(CLDN10):c.431C>T (p.Thr144Met) rs374187735 0.00006
NM_006946.4(SPTBN2):c.1895C>T (p.Ala632Val) rs757932120 0.00005
NM_000183.3(HADHB):c.110-2324G>C rs764471823 0.00004
NM_000256.3(MYBPC3):c.2939G>A (p.Arg980His) rs727503179 0.00004
NM_001365999.1(SZT2):c.9629G>A (p.Arg3210His) rs371193436 0.00004
NM_000213.5(ITGB4):c.4664G>A (p.Arg1555Gln) rs766336707 0.00002
NM_002381.5(MATN3):c.284G>A (p.Arg95Gln) rs755692495 0.00002
NM_004758.4(TSPOAP1):c.1325G>A (p.Arg442Gln) rs756869149 0.00002
NM_006218.4(PIK3CA):c.2309G>A (p.Arg770Gln) rs749840319 0.00002
NM_007078.3(LDB3):c.1703G>A (p.Arg568His) rs769156627 0.00002
NM_024577.4(SH3TC2):c.1942C>T (p.Arg648Trp) rs537049075 0.00002
NM_000094.4(COL7A1):c.8234G>A (p.Arg2745Gln) rs377182638 0.00001
NM_000098.3(CPT2):c.1766C>T (p.Thr589Met) rs756414686 0.00001
NM_000157.4(GBA1):c.1316G>A (p.Ser439Asn) rs1571966221 0.00001
NM_000284.4(PDHA1):c.522C>T (p.Gly174=) rs769308417 0.00001
NM_000492.4(CFTR):c.3925C>G (p.Gln1309Glu) rs193922732 0.00001
NM_000876.4(IGF2R):c.5691C>T (p.Thr1897=) rs139019277 0.00001
NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys) rs533330664 0.00001
NM_001127255.2(NLRP7):c.2402T>C (p.Leu801Pro) rs2068817265 0.00001
NM_001256545.2(MEGF10):c.*3847G>T rs539314216 0.00001
NM_001278064.2(GRM1):c.3405C>G (p.Ser1135Arg) rs1188689970 0.00001
NM_001330360.2(POLA1):c.1193G>A (p.Arg398His) rs915033662 0.00001
NM_001367561.1(DOCK7):c.3541C>T (p.Arg1181Cys) rs202054691 0.00001
NM_003331.5(TYK2):c.1694G>A (p.Arg565Gln) rs764267766 0.00001
NM_004360.5(CDH1):c.2602C>A (p.Arg868Ser) rs864622630 0.00001
NM_004446.3(EPRS1):c.3148C>T (p.Arg1050Cys) rs577103810 0.00001
NM_005548.3(KARS1):c.1493C>T (p.Ala498Val) rs1415687857 0.00001
NM_005570.4(LMAN1):c.1178T>C (p.Val393Ala) rs374176132 0.00001
NM_005921.2(MAP3K1):c.770C>T (p.Pro257Leu) rs56160159 0.00001
NM_012434.5(SLC17A5):c.574C>T (p.Pro192Ser) rs149233119 0.00001
NM_014855.3(AP5Z1):c.2399G>A (p.Arg800Lys) rs754594403 0.00001
NM_014855.3(AP5Z1):c.869G>A (p.Arg290Gln) rs778734781 0.00001
NM_015690.5(STK36):c.3643G>A (p.Ala1215Thr) rs537610210 0.00001
NM_020987.5(ANK3):c.13024A>C (p.Ser4342Arg) rs775338026 0.00001
NM_138694.4(PKHD1):c.10129G>A (p.Glu3377Lys) rs754382673 0.00001
NM_172107.4(KCNQ2):c.1291G>A (p.Gly431Arg) rs746853951 0.00001
NM_173653.4(SLC9A9):c.1268G>A (p.Arg423Gln) rs368254745 0.00001
NC_012920.1(MT-CYB):m.15192T>G
NC_012920.1(MT-ND5):m.13345G>A
NM_000037.4(ANK1):c.3598T>C (p.Cys1200Arg)
NM_000070.3(CAPN3):c.642T>G (p.Gly214=) rs2141167656
NM_000079.4(CHRNA1):c.191A>C (p.Asp64Ala)
NM_000080.4(CHRNE):c.353G>A (p.Gly118Asp) rs1555546986
NM_000142.5(FGFR3):c.445+2_445+5del rs756854039
NM_000163.5(GHR):c.309T>A (p.Asp103Glu)
NM_000256.3(MYBPC3):c.1919C>A (p.Pro640His)
NM_000257.4(MYH7):c.4681G>T (p.Ala1561Ser)
NM_000257.4(MYH7):c.5173_5175del (p.Asn1725del)
NM_000298.6(PKLR):c.657_677del (p.Asp220_Leu226del)
NM_000368.5(TSC1):c.814G>A (p.Glu272Lys) rs397514872
NM_000382.3(ALDH3A2):c.993A>C (p.Glu331Asp)
NM_000396.4(CTSK):c.637_639del (p.Asn213del)
NM_000414.4(HSD17B4):c.1016A>G (p.Tyr339Cys) rs2126780758
NM_000414.4(HSD17B4):c.835T>G (p.Phe279Val) rs1162207835
NM_000447.3(PSEN2):c.250G>A (p.Gly84Arg)
NM_000458.4(HNF1B):c.1436A>G (p.His479Arg)
NM_000478.6(ALPL):c.1468A>C (p.Ile490Leu)
NM_000523.4(HOXD13):c.937A>C (p.Thr313Pro) rs1301927745
NM_000530.8(MPZ):c.265_270del (p.Ile89_Asp90del)
NM_000540.3(RYR1):c.10868T>G (p.Leu3623Arg)
NM_000601.6(HGF):c.1810T>C (p.Cys604Arg)
NM_000651.6(CR1):c.6283C>A (p.His2095Asn) rs1571590802
NM_000748.3(CHRNB2):c.416A>C (p.Tyr139Ser) rs1466236236
NM_000785.4(CYP27B1):c.781T>G (p.Phe261Val)
NM_000829.4(GRIA4):c.221C>T (p.Ala74Val)
NM_000876.4(IGF2R):c.50G>C (p.Arg17Pro) rs2115160662
NM_001005361.3(DNM2):c.1810G>A (p.Glu604Lys) rs951875086
NM_001031689.3(PLAA):c.215G>A (p.Cys72Tyr)
NM_001035.3(RYR2):c.6484A>C (p.Met2162Leu) rs1680242037
NM_001035.3(RYR2):c.6517G>A (p.Glu2173Lys)
NM_001042545.2(LTBP4):c.2399G>A (p.Arg800Gln)
NM_001080508.3(TBX18):c.1285C>T (p.Arg429Ter) rs886041719
NM_001099922.3(ALG13):c.314T>C (p.Met105Thr)
NM_001122659.3(EDNRB):c.1228G>C (p.Glu410Gln) rs1878741475
NM_001122659.3(EDNRB):c.830T>G (p.Leu277Arg) rs1878958050
NM_001127222.2(CACNA1A):c.1924G>A (p.Asp642Asn) rs2057938033
NM_001127222.2(CACNA1A):c.7087C>T (p.Arg2363Cys)
NM_001127644.2(GABRA1):c.1350A>T (p.Lys450Asn) rs142385746
NM_001128831.4(CA1):c.368_369del (p.His123fs) rs768769200
NM_001139.3(ALOX12B):c.1235C>A (p.Ala412Asp)
NM_001142556.2(HMMR):c.769C>T (p.Gln257Ter)
NM_001164508.2(NEB):c.22639A>G (p.Met7547Val)
NM_001165963.4(SCN1A):c.242A>G (p.Asp81Gly) rs1684663181
NM_001267550.2(TTN):c.46945T>G (p.Phe15649Val)
NM_001267550.2(TTN):c.99412G>C (p.Gly33138Arg)
NM_001276345.2(TNNT2):c.626G>A (p.Gly209Glu)
NM_001281740.3(FHOD3):c.2077C>T (p.Arg693Trp)
NM_001281740.3(FHOD3):c.4304G>A (p.Cys1435Tyr)
NM_001290043.2(TAP2):c.629G>A (p.Arg210Gln)
NM_001297.5(CNGB1):c.2885T>G (p.Leu962Arg)
NM_001326342.2(CELF2):c.746G>T (p.Gly249Val)
NM_001361.5(DHODH):c.616G>A (p.Asp206Asn)
NM_001365951.3(KIF1B):c.2137G>A (p.Ala713Thr)
NM_001365999.1(SZT2):c.5797C>T (p.His1933Tyr) rs2153934308
NM_001367561.1(DOCK7):c.5425C>T (p.Arg1809Trp) rs1646379326
NM_001371727.1(GABRB2):c.173C>T (p.Pro58Leu)
NM_001374385.1(ATP8B1):c.2282T>A (p.Ile761Asn) rs1599090593
NM_001374385.1(ATP8B1):c.2663C>T (p.Thr888Met) rs540027832
NM_001375524.1(TRRAP):c.8324G>A (p.Arg2775Gln)
NM_001376571.1(MADD):c.3704G>A (p.Arg1235Gln)
NM_001378452.1(ITPR1):c.1813C>G (p.Leu605Val)
NM_001384.5(DPH2):c.260G>T (p.Ser87Ile) rs1571781453
NM_001384910.1(GUCA1A):c.184A>C (p.Thr62Pro)
NM_001394998.1(TANC2):c.4547G>A (p.Arg1516Gln)
NM_001457.4(FLNB):c.4589A>G (p.Tyr1530Cys) rs776043627
NM_001690.4(ATP6V1A):c.31G>T (p.Asp11Tyr)
NM_001927.4(DES):c.906C>T (p.Asp302=)
NM_001939.3(DRP2):c.2159G>A (p.Arg720Gln)
NM_002181.4(IHH):c.217C>T (p.Arg73Cys) rs2106310521
NM_002335.4(LRP5):c.1618C>T (p.Leu540Phe) rs1591284438
NM_002354.3(EPCAM):c.79T>G (p.Cys27Gly)
NM_002471.4(MYH6):c.5286G>A (p.Thr1762=)
NM_002491.3(NDUFB3):c.136G>A (p.Gly46Ser) rs1575544444
NM_002693.3(POLG):c.1403A>T (p.Asn468Ile)
NM_002861.5(PCYT2):c.555C>A (p.Asn185Lys) rs569322551
NM_003361.4(UMOD):c.176A>G (p.Asp59Gly)
NM_003722.5(TP63):c.1460G>A (p.Arg487His)
NM_003900.5(SQSTM1):c.1159C>G (p.Pro387Ala)
NM_003931.3(WASF1):c.715C>T (p.Pro239Ser) rs2114451272
NM_004183.4(BEST1):c.854T>A (p.Val285Asp) rs376577490
NM_004187.5(KDM5C):c.2785C>G (p.Arg929Gly)
NM_004341.5(CAD):c.6020T>C (p.Leu2007Pro) rs1676344855
NM_004360.5(CDH1):c.466T>G (p.Trp156Gly)
NM_004380.3(CREBBP):c.5462A>G (p.Gln1821Arg) rs1448187215
NM_004446.3(EPRS1):c.3344C>T (p.Pro1115Leu) rs1288116010
NM_004621.6(TRPC6):c.128G>T (p.Cys43Phe) rs2136909652
NM_005121.3(MED13):c.4174C>A (p.Leu1392Ile) rs2080074570
NM_005157.6(ABL1):c.1506C>G (p.Ile502Met)
NM_005198.5(CHKB):c.785T>G (p.Leu262Arg) rs2146653235
NM_005334.3(HCFC1):c.1790C>T (p.Ser597Phe)
NM_005422.4(TECTA):c.1690C>T (p.Leu564Phe) rs2135078204
NM_005458.8(GABBR2):c.2737A>G (p.Ser913Gly) rs1830289381
NM_005476.7(GNE):c.1609T>C (p.Phe537Leu)
NM_005476.7(GNE):c.27G>C (p.Lys9Asn)
NM_005476.7(GNE):c.469C>A (p.His157Asn) rs1587339749
NM_005548.3(KARS1):c.421A>C (p.Lys141Gln) rs761347066
NM_005996.4(TBX3):c.1534T>A (p.Ser512Thr)
NM_006009.4(TUBA1A):c.541G>A (p.Val181Ile)
NM_006087.4(TUBB4A):c.362G>A (p.Arg121Gln) rs1472127260
NM_006343.3(MERTK):c.2173G>C (p.Ala725Pro)
NM_006576.4(AVIL):c.1204A>G (p.Ile402Val) rs2140450849
NM_006576.4(AVIL):c.431A>T (p.Asn144Ile) rs2140456079
NM_006912.6(RIT1):c.292A>T (p.Ile98Phe)
NM_007078.3(LDB3):c.1622G>A (p.Arg541Gln)
NM_012064.4(MIP):c.513del (p.His172fs) rs1868688386
NM_014000.3(VCL):c.133G>C (p.Ala45Pro)
NM_014191.4(SCN8A):c.697G>T (p.Val233Leu) rs1592380699
NM_014629.4(ARHGEF10):c.1081A>T (p.Arg361Ter) rs774853645
NM_014698.3(TMEM63A):c.1049C>A (p.Ala350Asp)
NM_014874.4(MFN2):c.2229T>G (p.Ser743Arg) rs1569890121
NM_015001.3(SPEN):c.3613C>T (p.Arg1205Cys)
NM_015338.6(ASXL1):c.1928G>C (p.Gly643Ala) rs201649676
NM_015488.5(PNKD):c.490A>G (p.Thr164Ala) rs2106294008
NM_015690.5(STK36):c.1232A>T (p.Asn411Ile) rs2106349072
NM_015836.4(WARS2):c.882C>A (p.Ser294Arg)
NM_015978.3(TNNI3K):c.1921C>T (p.Arg641Trp)
NM_016239.4(MYO15A):c.9369C>A (p.Asp3123Glu)
NM_016343.4(CENPF):c.3424A>G (p.Met1142Val) rs778072776
NM_016955.4(SEPSECS):c.467G>A (p.Arg156Gln) rs776438003
NM_017534.6(MYH2):c.4204C>T (p.Arg1402Trp)
NM_017654.4(SAMD9):c.1253A>G (p.Asn418Ser)
NM_017654.4(SAMD9):c.843G>C (p.Lys281Asn) rs1791615248
NM_017947.4(MOCOS):c.633C>A (p.Tyr211Ter) rs2091405838
NM_018896.5(CACNA1G):c.2614C>A (p.Leu872Ile)
NM_018896.5(CACNA1G):c.2885T>C (p.Ile962Thr) rs2145513175
NM_018896.5(CACNA1G):c.3182C>G (p.Ala1061Gly) rs781015006
NM_020461.4(TUBGCP6):c.4994A>G (p.Gln1665Arg)
NM_021614.4(KCNN2):c.1193T>C (p.Ile398Thr)
NM_021614.4(KCNN2):c.428_439dup (p.Gln146_Ser147insTyrAlaGlnGln)
NM_021628.3(ALOXE3):c.75_76insGAC (p.Thr25_Leu26insAsp) rs2151848449
NM_021830.5(TWNK):c.793C>T (p.Arg265Cys) rs764669712
NM_022089.4(ATP13A2):c.514C>T (p.Arg172Cys)
NM_022168.4(IFIH1):c.2200C>T (p.Leu734Phe)
NM_024063.3(AFG2B):c.1526G>T (p.Cys509Phe)
NM_024301.5(FKRP):c.1130A>G (p.Gln377Arg) rs2122631661
NM_024301.5(FKRP):c.587G>A (p.Gly196Glu)
NM_024301.5(FKRP):c.646C>T (p.Arg216Trp) rs2054912295
NM_024574.4(NDNF):c.44_45delinsCT (p.Leu15Pro)
NM_024577.4(SH3TC2):c.289G>A (p.Ala97Thr) rs562689036
NM_024996.7(GFM1):c.1897G>C (p.Ala633Pro)
NM_024996.7(GFM1):c.749G>A (p.Arg250Gln) rs752251570
NM_025114.4(CEP290):c.104T>G (p.Val35Gly)
NM_030650.3(LNPK):c.896C>T (p.Ala299Val) rs759257720
NM_032119.4(ADGRV1):c.11585A>G (p.Asp3862Gly) rs2149981215
NM_032237.5(POMK):c.268G>A (p.Gly90Arg) rs2130601657
NM_032634.4(PIGO):c.449G>T (p.Gly150Val) rs1587176408
NM_032656.4(DHX37):c.499_500inv (p.Glu167Ser)
NM_032756.4(HPDL):c.119A>C (p.Asp40Ala)
NM_080605.4(B3GALT6):c.749C>T (p.Ala250Val) rs2100994545
NM_133443.4(GPT2):c.487G>A (p.Val163Met) rs1452698180
NM_138694.4(PKHD1):c.6101A>T (p.Asn2034Ile)
NM_138694.4(PKHD1):c.9974_9976del (p.Phe3325del)
NM_138773.4(SLC25A46):c.670A>G (p.Thr224Ala)
NM_139058.3(ARX):c.433G>T (p.Ala145Ser) rs1438576250
NM_144997.7(FLCN):c.1160C>A (p.Ala387Asp) rs1431737113
NM_145199.3(LIPT1):c.578T>C (p.Leu193Pro)
NM_152296.5(ATP1A3):c.2749G>C (p.Val917Leu)
NM_170606.3(KMT2C):c.2961C>G (p.Tyr987Ter) rs58528565
NM_170707.4(LMNA):c.62T>C (p.Leu21Pro) rs1649704361
NM_170784.3(MKKS):c.1490G>A (p.Cys497Tyr) rs2122219712
NM_173076.3(ABCA12):c.7104+5G>A
NM_201525.4(ADGRG1):c.64+5G>T
NM_203447.4(DOCK8):c.3002T>C (p.Met1001Thr) rs2054481229
NR_003051.4(RMRP):n.223G>T

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