ClinVar Miner

List of variants reported as uncertain significance by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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ClinVar version:
Total variants: 155
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_004793.4(LONP1):c.2203G>A (p.Val735Met) rs200317240 0.00018
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_003000.3(SDHB):c.113G>A (p.Arg38His) rs143058777 0.00010
NM_006295.3(VARS1):c.2086G>C (p.Gly696Arg) rs754688832 0.00009
NM_198576.4(AGRN):c.2093C>T (p.Ser698Leu) rs565444145 0.00008
NM_000426.4(LAMA2):c.2054T>G (p.Leu685Arg) rs746641607 0.00007
NM_000512.5(GALNS):c.1286C>T (p.Thr429Ile) rs768180795 0.00005
NM_001034116.2(EIF2B4):c.1399C>T (p.Arg467Trp) rs138249238 0.00004
NM_005681.4(TAF1A):c.1021G>A (p.Gly341Arg) rs765321518 0.00004
NM_001368894.2(PAX6):c.1074+139C>T rs1019883076 0.00003
NM_203290.4(POLR1C):c.32G>A (p.Arg11Gln) rs772728540 0.00003
NM_001364905.1(LRBA):c.2480G>A (p.Arg827Gln) rs201878879 0.00002
NM_001364905.1(LRBA):c.5324C>G (p.Ala1775Gly) rs552415217 0.00002
NM_013382.7(POMT2):c.1364G>A (p.Arg455Gln) rs757110456 0.00002
NM_013382.7(POMT2):c.512C>T (p.Ser171Leu) rs750346960 0.00002
NM_152743.4(BRAT1):c.232C>T (p.Arg78Cys) rs759508345 0.00002
NM_000631.5(NCF4):c.908T>G (p.Val303Gly) rs762012398 0.00001
NM_000642.3(AGL):c.872A>G (p.Asp291Gly) rs555262805 0.00001
NM_001122659.3(EDNRB):c.403G>A (p.Gly135Ser) rs760677132 0.00001
NM_001128159.3(VPS53):c.584C>T (p.Pro195Leu) rs548219603 0.00001
NM_001142800.2(EYS):c.7868G>A (p.Gly2623Glu) rs559824825 0.00001
NM_001365308.1(BMPER):c.1124T>C (p.Phe375Ser) rs756757241 0.00001
NM_001844.5(COL2A1):c.3397C>T (p.Arg1133Cys) rs1938732355 0.00001
NM_002085.5(GPX4):c.536G>A (p.Arg179His) rs763745871 0.00001
NM_004569.5(PIGH):c.487C>T (p.Arg163Trp) rs370763975 0.00001
NM_006303.4(AIMP2):c.105C>A (p.Tyr35Ter) rs529613640 0.00001
NM_013432.5(TONSL):c.1459G>A (p.Glu487Lys) rs563710728 0.00001
NM_014425.5(INVS):c.796+5G>A rs1272619479 0.00001
NM_016146.6(TRAPPC4):c.278C>T (p.Pro93Leu) rs1307746359 0.00001
NM_022445.4(TPK1):c.620A>T (p.Asp207Val) rs747262651 0.00001
NM_139075.4(TPCN2):c.580T>C (p.Phe194Leu) rs554622608 0.00001
NM_198576.4(AGRN):c.5824C>T (p.Arg1942Cys) rs748598591 0.00001
NC_000004.12:g.[10273397T>C;10322896G>C]
NC_000007.14:g.26263639_26335651delinsCA
NM_000069.3(CACNA1S):c.4316G>T (p.Cys1439Phe) rs2102555595
NM_000122.2(ERCC3):c.1628C>G (p.Ala543Gly)
NM_000138.5(FBN1):c.2419+3delinsTTTTAGATCCATATTTTAG rs2141304945
NM_000153.4(GALC):c.1338+16A>G
NM_000316.3(PTH1R):c.103G>A (p.Glu35Lys) rs1559532562
NM_000316.3(PTH1R):c.401A>C (p.Tyr134Ser) rs1575520937
NM_000352.6(ABCC8):c.259_262del (p.Cys87fs) rs2133728495
NM_000404.4(GLB1):c.1099C>T (p.Pro367Ser) rs1697636883
NM_000448.3(RAG1):c.2917C>A (p.Arg973Ser) rs1389614116
NM_000521.4(HEXB):c.880C>T (p.His294Tyr) rs2112171970
NM_000521.4(HEXB):c.965T>C (p.Ile322Thr) rs1749649940
NM_000785.4(CYP27B1):c.974C>T (p.Thr325Met) rs762118198
NM_001005373.4(LRSAM1):c.2111G>T (p.Arg704Leu)
NM_001015880.2(PAPSS2):c.1445TTG[1] (p.Val483del) rs2131731328
NM_001031710.3(KLHL7):c.178GTT[1] (p.Val61del) rs1554286093
NM_001032221.6(STXBP1):c.1359+5G>A rs2131513670
NM_001034850.3(RETREG1):c.631G>A (p.Gly211Arg)
NM_001063.4(TF):c.2063-11_2063-10del rs2107937266
NM_001101426.4(CRPPA):c.634G>A (p.Glu212Lys) rs2128312068
NM_001122659.3(EDNRB):c.1103A>T (p.Asp368Val) rs2137603390
NM_001128178.3(NPHP1):c.1352+5G>A rs1681080526
NM_001159773.2(CANT1):c.631+11C>A rs2145839791
NM_001203.3(BMPR1B):c.-17-52823C>T
NM_001203.3(BMPR1B):c.1252+410A>G
NM_001205.3(BNIP1):c.84+3A>T rs2113831423
NM_001243279.3(ACSF3):c.1367-464C>T rs2151560692
NM_001270974.2(HYDIN):c.8638_8658dup (p.Glu2880_Leu2886dup) rs2143763196
NM_001291303.3(FAT4):c.12479+3A>G rs2126083898
NM_001318510.2(ACSL4):c.151AAG[1] (p.Lys52del) rs2147449571
NM_001369.3(DNAH5):c.8905G>T (p.Ala2969Ser)
NM_001375.3(DNASE2):c.157T>C (p.Tyr53His)
NM_001375524.1(TRRAP):c.5596C>T (p.Arg1866Cys) rs1791432323
NM_001377.3(DYNC2H1):c.5930T>C (p.Ile1977Thr) rs2134994345
NM_001378457.1(DMXL2):c.352T>C (p.Trp118Arg)
NM_001382347.1(MYO5A):c.656G>A (p.Arg219His)
NM_001386393.1(PANK2):c.322A>C (p.Ile108Leu) rs188211202
NM_001457.4(FLNB):c.2471T>C (p.Leu824Pro) rs2107121791
NM_001783.4(CD79A):c.374T>G (p.Val125Gly) rs2123304410
NM_001844.5(COL2A1):c.4135C>T (p.Arg1379Cys) rs141951587
NM_002615.7(SERPINF1):c.-37C>A
NM_002700.3(POU4F3):c.675A>T (p.Gln225His)
NM_002778.4(PSAP):c.353T>C (p.Leu118Pro)
NM_003038.5(SLC1A4):c.1280G>A (p.Gly427Glu)
NM_003041.4(SLC5A2):c.1616T>G (p.Leu539Arg)
NM_003401.5(XRCC4):c.140-13A>G
NM_003705.5(SLC25A12):c.1469G>A (p.Arg490Gln) rs2105837625
NM_003742.4(ABCB11):c.2448G>A (p.Gln816=) rs2105912786
NM_003995.4(NPR2):c.130C>T (p.Arg44Trp)
NM_004239.4(TRIP11):c.5343-314T>C
NM_004371.4(COPA):c.3248G>A (p.Arg1083His) rs141211632
NM_004530.6(MMP2):c.1229G>T (p.Gly410Val) rs2142358782
NM_004793.4(LONP1):c.488A>C (p.Tyr163Ser) rs2055279214
NM_004813.4(PEX16):c.952+3A>G
NM_004870.4(MPDU1):c.137T>C (p.Leu46Pro) rs1452719895
NM_004897.5(MINPP1):c.1008C>G (p.Ser336Arg) rs2131815066
NM_005085.4(NUP214):c.199CTT[1] (p.Leu68del) rs1302128286
NM_005450.6(NOG):c.101G>C (p.Arg34Pro)
NM_005475.3(SH2B3):c.89G>A (p.Cys30Tyr)
NM_005529.7(HSPG2):c.4220A>G (p.Lys1407Arg)
NM_005630.3(SLCO2A1):c.1370C>T (p.Pro457Leu)
NM_005630.3(SLCO2A1):c.289C>T (p.Arg97Cys)
NM_005807.6(PRG4):c.3636G>T (p.Lys1212Asn) rs1657192119
NM_006295.3(VARS1):c.3695C>A (p.Pro1232Gln) rs1472868752
NM_006346.4(PIBF1):c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA (p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIleAspHis) rs1131692160
NM_006556.4(PMVK):c.398C>T (p.Ala133Val)
NM_006846.4(SPINK5):c.1010+7A>G rs2113105960
NM_006901.4(MYO9A):c.6419A>G (p.Asp2140Gly)
NM_006901.4(MYO9A):c.7224G>C (p.Lys2408Asn)
NM_006941.4(SOX10):c.415G>T (p.Gly139Cys) rs1569171143
NM_006949.4(STXBP2):c.58C>T (p.Arg20Trp)
NM_012262.4(HS2ST1):c.251C>T (p.Thr84Met)
NM_013265.4(VPS51):c.419CCA[1] (p.Thr141del) rs1565313895
NM_013432.5(TONSL):c.122-7C>G rs2129704572
NM_013432.5(TONSL):c.1471_1472del (p.Ser491fs) rs2129675776
NM_013432.5(TONSL):c.1986GCT[1] (p.Leu664del) rs745362266
NM_013432.5(TONSL):c.521G>A (p.Ser174Asn) rs1188878572
NM_014055.4(IFT81):c.134T>C (p.Ile45Thr) rs1227213671
NM_014727.3(KMT2B):c.5821G>A (p.Val1941Met)
NM_014738.6(TMEM94):c.1970_1974dup (p.Pro659fs) rs2146765869
NM_015311.3(OBSL1):c.1534+5G>C rs775172922
NM_015465.5(GEMIN5):c.4378G>A (p.Val1460Met) rs1561705504
NM_015474.4(SAMHD1):c.1634T>G (p.Phe545Cys) rs1401777461
NM_015909.4(NBAS):c.886-3C>G rs765170132
NM_016030.6(TRAPPC12):c.1604C>T (p.Ala535Val) rs773583668
NM_016030.6(TRAPPC12):c.1892T>G (p.Leu631Arg) rs761982198
NM_016034.5(MRPS2):c.490G>A (p.Glu164Lys)
NM_016058.5(TPRKB):c.89GAA[1] (p.Arg31del) rs2103862688
NM_016123.4(IRAK4):c.169G>A (p.Glu57Lys)
NM_016146.6(TRAPPC4):c.191T>C (p.Leu64Pro) rs1943259006
NM_016373.4(WWOX):c.172+5G>A
NM_017662.5(TRPM6):c.3537-348A>G
NM_018052.5(VAC14):c.1927C>T (p.Arg643Trp) rs2142991592
NM_018116.4(MSTO1):c.422-3C>G rs2148988026
NM_018194.6(HHAT):c.362CCA[1] (p.Thr122del) rs2148196864
NM_020435.4(GJC2):c.104G>A (p.Arg35His)
NM_020435.4(GJC2):c.148G>A (p.Glu50Lys) rs1255327063
NM_020771.4(HACE1):c.1346C>G (p.Ala449Gly) rs2114797044
NM_021074.5(NDUFV2):c.548C>T (p.Ala183Val) rs763378243
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn) rs397509422
NM_024105.4(ALG12):c.1288A>C (p.Thr430Pro) rs878852984
NM_024312.5(GNPTAB):c.1134C>G (p.Ser378Arg) rs2137123702
NM_024884.3(L2HGDH):c.908T>A (p.Val303Asp) rs2139977737
NM_025136.4(OPA3):c.142+5G>C rs1250409781
NM_025243.4(SLC19A3):c.892T>G (p.Tyr298Asp) rs2106328613
NM_031296.3(RAB33B):c.690A>C (p.Ter230Tyr) rs2111088217
NM_032193.4(RNASEH2C):c.398G>A (p.Gly133Asp) rs2135652409
NM_032578.4(MYPN):c.3380G>T (p.Gly1127Val)
NM_032888.4(COL27A1):c.2521G>A (p.Gly841Arg) rs1831978153
NM_032888.4(COL27A1):c.[295G>A;3056C>A]
NM_033629.6(TREX1):c.554G>C (p.Arg185Pro)
NM_133368.3(RSPRY1):c.1652G>A (p.Cys551Tyr) rs2146410648
NM_138387.4(G6PC3):c.183C>A (p.Ser61Arg) rs2144135649
NM_138387.4(G6PC3):c.482G>C (p.Arg161Pro) rs1485073209
NM_144596.4(TTC8):c.265+5G>A rs2094770219
NM_144687.4(NLRP12):c.1028G>A (p.Arg343Gln)
NM_152743.4(BRAT1):c.393_422del (p.Gln132_Ala141del) rs1562582216
NM_153033.5(KCTD7):c.518T>A (p.Ile173Asn)
NM_153218.4(LACC1):c.832G>C (p.Ala278Pro) rs774376052
NM_173630.4(RTTN):c.4438C>T (p.Leu1480Phe) rs773407722
NM_177550.5(SLC13A5):c.659G>A (p.Gly220Asp) rs2151493922

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