ClinVar Miner

List of variants reported as uncertain significance by Breda Genetics srl

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ClinVar version:
Total variants: 157
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HGVS dbSNP gnomAD frequency
NM_017696.3(MCM9):c.503G>A (p.Arg168Gln) rs34665713 0.00058
NM_139343.3(BIN1):c.715G>A (p.Val239Ile) rs146573197 0.00036
NM_000260.4(MYO7A):c.3415G>A (p.Gly1139Ser) rs200840044 0.00034
NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile) rs137889316 0.00034
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys) rs143820618 0.00034
NM_001231.5(CASQ1):c.1061C>T (p.Ala354Val) rs147541452 0.00023
NM_018112.3(TMEM38B):c.662T>C (p.Ile221Thr) rs201882609 0.00020
NM_033118.4(MYLK2):c.260C>T (p.Ala87Val) rs121908107 0.00014
NM_001164508.2(NEB):c.11077-62A>G rs951123465 0.00011
NM_025207.5(FLAD1):c.1610G>C (p.Cys537Ser) rs143499209 0.00011
NM_000088.4(COL1A1):c.391C>A (p.Arg131=) rs776611767 0.00010
NM_020066.5(FMN2):c.4123C>A (p.Leu1375Ile) rs146873580 0.00010
NM_198576.4(AGRN):c.183G>C (p.Gln61His) rs951245406 0.00010
NM_032806.6(POMGNT2):c.635A>G (p.Lys212Arg) rs141665095 0.00009
NM_001042702.5(PJVK):c.946A>C (p.Asn316His) rs776028922 0.00008
NM_001453.3(FOXC1):c.1337A>G (p.His446Arg) rs1413102496 0.00007
NM_000094.4(COL7A1):c.4720C>T (p.Arg1574Trp) rs773815805 0.00006
NM_001371279.1(REEP1):c.537C>T (p.Ser179=) rs201564869 0.00005
NM_005050.4(ABCD4):c.611T>C (p.Leu204Ser) rs538521064 0.00005
NM_016156.6(MTMR2):c.80G>C (p.Ser27Thr) rs879253940 0.00005
NM_021971.4(GMPPB):c.160A>C (p.Ser54Arg) rs145671483 0.00005
NM_000338.3(SLC12A1):c.2653T>C (p.Ser885Pro) rs375157909 0.00004
NM_001256545.2(MEGF10):c.2873T>G (p.Leu958Arg) rs768809701 0.00004
NM_001723.7(DST):c.3886A>G (p.Lys1296Glu) rs771246306 0.00004
NM_000297.4(PKD2):c.2408G>A (p.Arg803Gln) rs771211716 0.00003
NM_000540.3(RYR1):c.4003C>T (p.Arg1335Cys) rs767382534 0.00003
NM_000829.4(GRIA4):c.104G>A (p.Arg35Gln) rs762714307 0.00003
NM_001386298.1(CIC):c.6190G>A (p.Ala2064Thr) rs148703020 0.00003
NM_001371986.1(UNC80):c.7415C>T (p.Thr2472Met) rs753979355 0.00002
NM_002972.4(SBF1):c.4882G>A (p.Glu1628Lys) rs377302977 0.00002
NM_004370.6(COL12A1):c.7472A>G (p.Lys2491Arg) rs199633490 0.00002
NM_007078.3(LDB3):c.491C>T (p.Pro164Leu) rs761907380 0.00002
NM_025265.4(TSEN2):c.845A>G (p.Asn282Ser) rs202056552 0.00002
NM_152713.5(STT3A):c.1310G>A (p.Arg437His) rs776079118 0.00002
NM_153717.3(EVC):c.1776+5G>A rs968001713 0.00002
NM_001148.6(ANK2):c.7000G>A (p.Ala2334Thr) rs2095706081 0.00001
NM_001161352.2(KCNMA1):c.2282C>T (p.Pro761Leu) rs771363378 0.00001
NM_001303256.3(MORC2):c.286C>G (p.Gln96Glu) rs749060708 0.00001
NM_001353345.2(SETD1B):c.3878C>T (p.Ala1293Val) rs1876485013 0.00001
NM_001393500.2(TOMT):c.400C>T (p.Arg134Cys) rs1038978268 0.00001
NM_001458.5(FLNC):c.1840G>A (p.Ala614Thr) rs746183882 0.00001
NM_004369.4(COL6A3):c.6838C>A (p.Pro2280Thr) rs779359869 0.00001
NM_005006.7(NDUFS1):c.2140G>A (p.Val714Ile) rs771012852 0.00001
NM_014806.5(RUSC2):c.2626G>A (p.Glu876Lys) rs1486315197 0.00001
NM_015330.6(SPECC1L):c.1195C>T (p.Arg399Trp) rs2040735453 0.00001
NM_021254.4(CFAP298):c.160C>T (p.His54Tyr) rs1389962473 0.00001
NM_022835.3(PLEKHG2):c.2188G>A (p.Ala730Thr) rs140550857 0.00001
NM_025083.5(EDC3):c.778C>T (p.Arg260Trp) rs748142645 0.00001
NM_138927.4(SON):c.2159C>G (p.Thr720Ser) rs765797562 0.00001
NM_173076.3(ABCA12):c.2637C>T (p.Ser879=) rs760070967 0.00001
NM_212482.4(FN1):c.4720G>A (p.Gly1574Arg) rs764285223 0.00001
NM_000094.4(COL7A1):c.4678G>A (p.Gly1560Arg) rs2044774392
NM_000124.4(ERCC6):c.652G>A (p.Glu218Lys) rs2132631324
NM_000152.5(GAA):c.2452C>T (p.Leu818Phe)
NM_000284.4(PDHA1):c.1033_1035dup (p.Glu345_Ile346insGlu)
NM_000335.5(SCN5A):c.5656A>T (p.Ile1886Phe) rs2125825137
NM_000426.4(LAMA2):c.1206G>C (p.Gly402=) rs1167723109
NM_000546.6(TP53):c.1096T>C (p.Ser366Pro) rs17881470
NM_000726.5(CACNB4):c.669G>A (p.Val223=) rs2151408188
NM_000744.7(CHRNA4):c.245T>C (p.Met82Thr) rs2068719750
NM_000796.6(DRD3):c.404C>A (p.Pro135His) rs199862630
NM_000829.4(GRIA4):c.1237G>C (p.Glu413Gln) rs2136164234
NM_000937.5(POLR2A):c.3773G>A (p.Arg1258His) rs1480636825
NM_001005361.3(DNM2):c.1196+647G>T rs2146025928
NM_001008537.3(NEXMIF):c.526A>T (p.Thr176Ser) rs747231678
NM_001040142.2(SCN2A):c.2057G>T (p.Ser686Ile) rs796053190
NM_001042681.2(RERE):c.3466G>T (p.Gly1156Trp) rs766951273
NM_001079872.2(CUL4B):c.2652T>G (p.Asp884Glu) rs768424127
NM_001080517.3(SETD5):c.3006A>T (p.Gly1002=) rs2125579215
NM_001098816.3(TENM4):c.1199C>A (p.Pro400His)
NM_001135998.3(NDUFB11):c.2T>A (p.Met1Lys) rs2147053636
NM_001135998.3(NDUFB11):c.83G>T (p.Arg28Leu) rs1931955439
NM_001145358.2(SIN3A):c.3640G>A (p.Val1214Ile) rs750796375
NM_001170535.3(ATAD3A):c.1006A>G (p.Arg336Gly) rs1641700970
NM_001173467.3(SP7):c.1093C>T (p.Arg365Ter) rs1427780619
NM_001184880.2(PCDH19):c.626C>A (p.Thr209Asn) rs1928444379
NM_001190274.2(FBXO11):c.149A>G (p.Gln50Arg) rs781277953
NM_001203.3(BMPR1B):c.71C>T (p.Thr24Ile) rs912115035
NM_001244008.2(KIF1A):c.47A>G (p.Asn16Ser) rs1435248246
NM_001267550.2(TTN):c.3635C>T (p.Ser1212Phe) rs2154348242
NM_001267550.2(TTN):c.6884T>C (p.Ile2295Thr) rs1561265332
NM_001330260.2(SCN8A):c.1460G>C (p.Ser487Thr)
NM_001354930.2(RIPK1):c.607G>T (p.Ala203Ser) rs149432620
NM_001363118.2(SLC52A2):c.596C>T (p.Ala199Val) rs2130642900
NM_001365276.2(TNXB):c.2747T>C (p.Val916Ala) rs2127272436
NM_001365536.1(SCN9A):c.1465T>G (p.Ser489Ala) rs1697749010
NM_001369268.1(ACAN):c.6535A>G (p.Thr2179Ala) rs2141613132
NM_001371986.1(UNC80):c.416C>T (p.Ser139Phe) rs1237674284
NM_001371986.1(UNC80):c.5132T>G (p.Val1711Gly)
NM_001371986.1(UNC80):c.9725C>A (p.Thr3242Asn) rs1575264901
NM_001375380.1(EBF3):c.486-10T>G rs2134611078
NM_001393769.1(MED12L):c.2611C>T (p.Leu871Phe) rs2150052393
NM_001394062.1(MACF1):c.19924G>C (p.Glu6642Gln) rs2148673732
NM_001457.4(FLNB):c.501C>A (p.Asp167Glu) rs746892435
NM_001556.3(IKBKB):c.987G>A (p.Glu329=) rs1402092076
NM_001605.3(AARS1):c.1786C>T (p.Pro596Ser) rs780249378
NM_001999.4(FBN2):c.3200G>C (p.Gly1067Ala) rs1751146734
NM_002860.4(ALDH18A1):c.1926A>G (p.Val642=) rs2139530896
NM_003036.4(SKI):c.219G>A (p.Val73=) rs1638568131
NM_003070.5(SMARCA2):c.4262G>A (p.Arg1421Gln) rs1827027348
NM_003193.5(TBCE):c.155G>A (p.Ser52Asn) rs2102857663
NM_003413.4(ZIC3):c.1010A>G (p.Lys337Arg) rs1931371643
NM_003718.5(CDK13):c.[838C>T;839G>C]
NM_004068.4(AP2M1):c.911A>C (p.Lys304Thr) rs2109031749
NM_004268.5(MED17):c.890C>G (p.Ala297Gly) rs143018025
NM_004408.4(DNM1):c.1153C>T (p.Arg385Ter) rs1835102166
NM_004637.6(RAB7A):c.544C>G (p.Leu182Val)
NM_004752.4(GCM2):c.60C>A (p.Ser20Arg)
NM_004817.4(TJP2):c.3484GAG[3] (p.Glu1165del) rs746080083
NM_004855.5(PIGB):c.1016G>A (p.Arg339Gln) rs749040766
NM_004984.4(KIF5A):c.1890G>C (p.Gln630His)
NM_005006.7(NDUFS1):c.184C>T (p.Arg62Ter) rs2105978220
NM_005051.3(QARS1):c.1132C>G (p.Arg378Gly) rs185476065
NM_005618.4(DLL1):c.1964G>A (p.Arg655Lys) rs2114957465
NM_005619.5(RTN2):c.212G>T (p.Gly71Val)
NM_005908.4(MANBA):c.545G>A (p.Arg182Gln) rs759103361
NM_005909.5(MAP1B):c.742C>A (p.Pro248Thr) rs1747089370
NM_006734.4(HIVEP2):c.1418A>T (p.Asp473Val) rs2114660781
NM_006846.4(SPINK5):c.2891C>A (p.Ala964Glu) rs1754449328
NM_006901.4(MYO9A):c.6476-7dup rs574938131
NM_012452.3(TNFRSF13B):c.476A>T (p.Gln159Leu) rs2143642404
NM_014168.4(METTL5):c.43C>T (p.Gln15Ter) rs1247557050
NM_014846.4(WASHC5):c.2429A>T (p.Lys810Met) rs780468544
NM_014875.3(KIF14):c.3127C>T (p.His1043Tyr) rs763872222
NM_015178.3(RHOBTB2):c.208C>T (p.Arg70Ter) rs1215059455
NM_015443.4(KANSL1):c.1289+8G>C rs767152233
NM_015570.4(AUTS2):c.1906A>G (p.Thr636Ala) rs1790618973
NM_015570.4(AUTS2):c.2587G>T (p.Val863Leu) rs1791761825
NM_017755.6(NSUN2):c.340G>A (p.Val114Ile) rs2126513553
NM_017952.6(PTCD3):c.1551A>C (p.Lys517Asn)
NM_018063.5(HELLS):c.2077G>T (p.Asp693Tyr) rs1845596397
NM_018341.3(ERMARD):c.1511del (p.Pro504fs) rs1328981245
NM_020247.5(COQ8A):c.1054G>T (p.Gly352Cys) rs536852535
NM_022168.4(IFIH1):c.32T>C (p.Phe11Ser) rs1355798943
NM_022835.3(PLEKHG2):c.3272G>A (p.Gly1091Asp) rs2146020906
NM_024496.4(IRF2BPL):c.1799C>T (p.Pro600Leu) rs1885102913
NM_024700.4(SNIP1):c.1054C>G (p.Leu352Val) rs1643118461
NM_024884.3(L2HGDH):c.947C>T (p.Thr316Ile) rs2139977562
NM_025074.7(FRAS1):c.4556G>A (p.Arg1519Gln) rs751175883
NM_031407.7(HUWE1):c.4461+96T>G rs1020095850
NM_031448.6(C19orf12):c.268A>G (p.Asn90Asp) rs1972180871
NM_032178.3(SLC7A6OS):c.709T>C (p.Tyr237His) rs2151239071
NM_032242.4(PLXNA1):c.3020A>T (p.Asn1007Ile)
NM_033026.6(PCLO):c.1753C>T (p.Pro585Ser) rs2116685195
NM_033337.3(CAV3):c.22G>A (p.Asp8Asn) rs2124977121
NM_080476.5(PIGU):c.1194+3A>G rs919805615
NM_134261.3(RORA):c.604A>G (p.Asn202Asp) rs2141320009
NM_144773.4(PROKR2):c.818C>A (p.Thr273Lys) rs779117079
NM_145868.2(ANXA11):c.904C>T (p.Arg302Cys) rs142183550
NM_152641.4(ARID2):c.2230G>A (p.Val744Ile) rs541063414
NM_153006.3(NAGS):c.56T>C (p.Leu19Pro) rs1230176529
NM_153816.6(SNX14):c.295C>T (p.His99Tyr) rs1795901647
NM_170606.3(KMT2C):c.4602G>T (p.Gln1534His) rs992987667
NM_182710.3(KAT5):c.1264+3_1264+6del rs781459819
NM_182961.4(SYNE1):c.16880T>C (p.Leu5627Pro) rs2153836967
NM_182961.4(SYNE1):c.6724-3C>T
NM_183381.3(RNF13):c.950_951del (p.Ser317fs) rs2108622490

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