ClinVar Miner

List of variants reported as likely pathogenic by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 266
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His) rs200473652 0.00163
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys) rs146013446 0.00070
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496 0.00048
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_015836.4(WARS2):c.791A>G (p.Tyr264Cys) rs139194636 0.00024
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter) rs200503833 0.00019
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002 0.00017
NM_003041.4(SLC5A2):c.885+5G>A rs200228142 0.00014
NM_019109.5(ALG1):c.1187+3A>G rs369160589 0.00013
NM_021120.4(DLG3):c.1721G>A (p.Arg574Gln) rs149595793 0.00007
NM_001384474.1(LOXHD1):c.6539G>A (p.Gly2180Glu) rs763915229 0.00006
NM_016111.4(TELO2):c.1772T>G (p.Val591Gly) rs142217951 0.00006
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584 0.00006
NM_181789.4(GLDN):c.95C>A (p.Ala32Glu) rs779432560 0.00006
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His) rs199473283 0.00004
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109 0.00003
NM_005159.5(ACTC1):c.941G>A (p.Arg314His) rs121912673 0.00003
NM_005984.5(SLC25A1):c.844C>T (p.Arg282Cys) rs431905509 0.00003
NM_015213.4(DENND5A):c.2314C>T (p.Arg772Ter) rs1057519563 0.00003
NM_017799.4(TMEM260):c.1869+1G>A rs141599092 0.00003
NM_018161.5(NADSYN1):c.1459C>T (p.Arg487Ter) rs368115694 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_025233.7(COASY):c.701-2A>C rs1022433060 0.00003
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000218.3(KCNQ1):c.1768G>A (p.Ala590Thr) rs199472813 0.00002
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) rs727504238 0.00002
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125 0.00002
NM_000370.3(TTPA):c.552G>A (p.Thr184=) rs181109321 0.00002
NM_001371986.1(UNC80):c.6805G>A (p.Asp2269Asn) rs886041094 0.00002
NM_001375405.1(CEP120):c.2323C>T (p.Gln775Ter) rs759125480 0.00002
NM_004211.5(SLC6A5):c.9C>A (p.Cys3Ter) rs752254977 0.00002
NM_005138.3(SCO2):c.268C>T (p.Arg90Ter) rs74315512 0.00002
NM_020458.4(TTC7A):c.1433T>C (p.Leu478Pro) rs201100272 0.00002
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp) rs777323132 0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702 0.00001
NM_000212.3(ITGB3):c.1132C>T (p.Arg378Cys) rs774332906 0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu) rs199472979 0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000303.3(PMM2):c.58C>T (p.Pro20Ser) rs949271895 0.00001
NM_000303.3(PMM2):c.66+1G>T rs937726878 0.00001
NM_000335.5(SCN5A):c.2677C>T (p.Arg893Cys) rs199473171 0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781 0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397 0.00001
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400 0.00001
NM_001203.3(BMPR1B):c.988C>T (p.His330Tyr) rs1177728492 0.00001
NM_003721.4(RFXANK):c.454_455del (p.Ile152fs) rs753338285 0.00001
NM_004370.6(COL12A1):c.3901C>T (p.Arg1301Ter) rs1304140510 0.00001
NM_005061.3(RPL3L):c.80G>A (p.Gly27Asp) rs770344400 0.00001
NM_005273.4(GNB2):c.217G>A (p.Ala73Thr) rs1424516740 0.00001
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) rs119482083 0.00001
NM_014425.5(INVS):c.1789C>T (p.Arg597Ter) rs755288504 0.00001
NM_015213.4(DENND5A):c.3629G>A (p.Arg1210Gln) rs1057519564 0.00001
NM_015512.5(DNAH1):c.3772C>T (p.Gln1258Ter) rs1415820936 0.00001
NM_015836.4(WARS2):c.715C>T (p.Arg239Ter) rs757600616 0.00001
NM_017654.4(SAMD9):c.2944C>T (p.Arg982Cys) rs1247438528 0.00001
NM_017934.7(PHIP):c.2368C>T (p.Gln790Ter) rs1582175173 0.00001
NM_020458.4(TTC7A):c.2495C>T (p.Ala832Val) rs755985958 0.00001
NM_152393.4(KLHL40):c.100G>C (p.Asp34His) rs778565563 0.00001
GRCh37/hg19 10q11.22-11.23(chr10:46966535-51874356)x1
GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3
GRCh37/hg19 15q11.2(chr15:22746948-23323445)x1
GRCh37/hg19 15q11.2(chr15:22770421-23282799)x1
GRCh37/hg19 16p12.2(chr16:21936726-22461225)x1
GRCh37/hg19 16p13.11(chr16:14886858-16328857)x3
GRCh37/hg19 17p11.2(chr17:17117620-17118776)x1
GRCh37/hg19 20q13.12(chr20:42981187-42987120)x1
GRCh37/hg19 22q11.21(chr22:20754407-21457610)x1
GRCh37/hg19 22q11.21(chr22:21081284-21457610)x1
GRCh37/hg19 2q13(chr2:111368818-113065741)x3
GRCh37/hg19 4p16.3(chr4:1420948-1836794)x3
GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del) rs796051920
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter) rs80358928
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) rs80358233
NM_000214.3(JAG1):c.588C>A (p.Cys196Ter) rs1801138
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000284.4(PDHA1):c.461A>G (p.His154Arg) rs1131692230
NM_000284.4(PDHA1):c.624C>A (p.Tyr208Ter) rs2147180742
NM_000310.4(PPT1):c.442G>T (p.Gly148Ter) rs2124484378
NM_000435.3(NOTCH3):c.6409_6410del (p.Leu2137fs)
NM_000465.4(BARD1):c.872del (p.Thr291fs) rs1574818832
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000587.4(C7):c.1561C>A (p.Arg521Ser) rs121964920
NM_000807.4(GABRA2):c.862A>G (p.Thr288Ala)
NM_000834.5(GRIN2B):c.1858G>A (p.Val620Met) rs796052571
NM_000834.5(GRIN2B):c.2045G>A (p.Arg682His) rs886041095
NM_001003694.2(BRPF1):c.1755_1756delinsT (p.Lys585fs) rs1559662068
NM_001003694.2(BRPF1):c.3456CTT[1] (p.Phe1154del) rs1553697341
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys) rs797045412
NM_001029896.2(WDR45):c.516+5G>A
NM_001029896.2(WDR45):c.973+1G>A rs869312661
NM_001032221.6(STXBP1):c.451_454del (p.Asp151fs)
NM_001040142.2(SCN2A):c.2774T>C (p.Met925Thr) rs1057518373
NM_001040142.2(SCN2A):c.4644G>C (p.Met1548Ile) rs1574746759
NM_001042492.3(NF1):c.4228T>A (p.Phe1410Ile) rs2151461937
NM_001083962.2(TCF4):c.1486G>T (p.Gly496Cys) rs1599570613
NM_001127222.2(CACNA1A):c.1785C>G (p.Tyr595Ter) rs2057948502
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met) rs764839814
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127392.3(MYRF):c.1200C>A (p.Asn400Lys) rs1565295267
NM_001127392.3(MYRF):c.2074C>G (p.Leu692Val) rs1162309498
NM_001130004.2(ACTN1):c.2201A>G (p.Gln734Arg) rs1555343284
NM_001134407.3(GRIN2A):c.4375A>G (p.Ser1459Gly) rs869312681
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001142966.3(GREB1L):c.157+1del rs2040417979
NM_001161352.2(KCNMA1):c.2846A>G (p.Asn949Ser) rs1565091862
NM_001164508.2(NEB):c.20401G>T (p.Gly6801Ter) rs1405498595
NM_001165963.4(SCN1A):c.707T>C (p.Ile236Thr) rs886039464
NM_001173464.2(KIF21A):c.706C>T (p.Gln236Ter) rs267603451
NM_001190274.2(FBXO11):c.1576G>A (p.Ala526Thr) rs1572785471
NM_001190274.2(FBXO11):c.2666A>T (p.Asp889Val)
NM_001200.4(BMP2):c.939G>A (p.Trp313Ter) rs1600173481
NM_001242896.3(DEPDC5):c.1840A>T (p.Arg614Ter)
NM_001256627.2(BRSK2):c.1532_1533del (p.Glu511fs) rs1135402760
NM_001256627.2(BRSK2):c.635G>A (p.Gly212Glu) rs1554904772
NM_001273.5(CHD4):c.2978A>G (p.Asn993Ser) rs1592273799
NM_001288705.3(CSF1R):c.2699G>A (p.Arg900Lys) rs1757092904
NM_001291415.2(KDM6A):c.4317T>A (p.Tyr1439Ter) rs1603068073
NM_001303052.2(MYT1L):c.1559T>C (p.Leu520Pro) rs1057519560
NM_001312909.2(FAM111A):c.931A>T (p.Ile311Phe) rs145826377
NM_001320.7(CSNK2B):c.202C>T (p.Gln68Ter) rs2151187172
NM_001320.7(CSNK2B):c.229G>T (p.Glu77Ter) rs1583608433
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr) rs1555940536
NM_001330260.2(SCN8A):c.5276A>G (p.Asn1759Ser) rs869312690
NM_001330260.2(SCN8A):c.719T>C (p.Ile240Thr) rs1592387849
NM_001330700.2(TOP2B):c.3451C>G (p.Leu1151Val) rs1702479861
NM_001348716.2(KDM6B):c.3945-2A>T rs2151379290
NM_001356.5(DDX3X):c.1171-2A>C rs2147356545
NM_001366521.1(ATP2B1):c.1907_1908del (p.Val636fs) rs2136050284
NM_001369268.1(ACAN):c.613_616dup (p.Asp206delinsGlyTer) rs2141567062
NM_001369369.1(FOXN1):c.1364_1367del (p.Tyr455fs) rs2151499024
NM_001372066.1(TFAP2A):c.758G>A (p.Gly253Glu) rs151344527
NM_001372066.1(TFAP2A):c.769A>G (p.Arg257Gly) rs121909574
NM_001374828.1(ARID1B):c.1293_1317del (p.Ala433fs) rs1778944605
NM_001376.5(DYNC1H1):c.2868+2_2868+5delinsCCACAAA rs2141276717
NM_001376.5(DYNC1H1):c.5873A>G (p.Asp1958Gly)
NM_001376571.1(MADD):c.3070C>T (p.Gln1024Ter) rs148016422
NM_001378452.1(ITPR1):c.7605_7606del (p.Thr2535_Cys2536insTer) rs2106492882
NM_001379110.1(SLC9A6):c.1189del (p.Ala397fs)
NM_001379403.1(WDR26):c.1411G>C (p.Ala471Pro) rs2102905325
NM_001379403.1(WDR26):c.1525T>G (p.Trp509Gly) rs1553354956
NM_001379403.1(WDR26):c.1537G>A (p.Asp513Asn) rs1553354952
NM_001385012.1(NBEA):c.2836C>T (p.His946Tyr) rs869312667
NM_001385012.1(NBEA):c.6637C>T (p.Arg2213Ter) rs878853169
NM_001388303.1(HECTD4):c.4958+1G>A
NM_001393769.1(MED12L):c.6097C>T (p.Gln2033Ter) rs1553815325
NM_001429.4(EP300):c.6691del (p.Met2231fs) rs1601641819
NM_001453.3(FOXC1):c.1157del (p.Gly386fs) rs1762550387
NM_001658.4(ARF1):c.143C>T (p.Thr48Ile) rs1571844539
NM_001807.6(CEL):c.337C>T (p.Gln113Ter) rs1200339761
NM_001844.5(COL2A1):c.1826G>T (p.Gly609Val) rs140580674
NM_001844.5(COL2A1):c.1937dup (p.Ala647fs) rs2136558900
NM_001844.5(COL2A1):c.2464G>A (p.Gly822Ser) rs2136539942
NM_001844.5(COL2A1):c.2594del (p.Pro865fs) rs2136537559
NM_001844.5(COL2A1):c.3563G>C (p.Gly1188Ala) rs1592197682
NM_001845.6(COL4A1):c.3556G>A (p.Gly1186Ser) rs1877701802
NM_001853.4(COL9A3):c.700C>T (p.Arg234Ter) rs1027769042
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_002107.7(H3-3A):c.365C>T (p.Pro122Leu) rs1576203003
NM_002547.3(OPHN1):c.2035G>A (p.Asp679Asn) rs869312676
NM_002641.4(PIGA):c.395C>G (p.Ser132Cys) rs1060499625
NM_002834.5(PTPN11):c.1409T>C (p.Ile470Thr) rs2038706856
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.772G>A (p.Glu258Lys) rs1279770165
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_002880.4(RAF1):c.776C>G (p.Ser259Cys) rs397516827
NM_002968.3(SALL1):c.269dup (p.Pro91fs) rs2143452445
NM_003070.5(SMARCA2):c.3562G>A (p.Ala1188Thr) rs281875196
NM_003722.5(TP63):c.1685T>C (p.Leu562Pro) rs774221257
NM_003722.5(TP63):c.739C>T (p.His247Tyr) rs1553856553
NM_003924.4(PHOX2B):c.440A>G (p.Gln147Arg) rs2153112821
NM_003924.4(PHOX2B):c.741_758dup (p.Ala255_Ala260dup) rs771383153
NM_004247.4(EFTUD2):c.2335C>T (p.Leu779Phe) rs1597789186
NM_004380.3(CREBBP):c.5237G>T (p.Gly1746Val) rs869312714
NM_004380.3(CREBBP):c.5344G>A (p.Ala1782Thr) rs1567263529
NM_004380.3(CREBBP):c.6324C>A (p.Tyr2108Ter) rs199821421
NM_004380.3(CREBBP):c.85+1G>A rs1597099388
NM_004429.5(EFNB1):c.24G>A (p.Trp8Ter) rs2080439314
NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup) rs193922941
NM_005120.3(MED12):c.1546C>T (p.Arg516Cys) rs1569481124
NM_005188.4(CBL):c.1096-4_1096-1del rs397517077
NM_005249.5(FOXG1):c.553A>T (p.Ser185Cys) rs879255530
NM_005269.3(GLI1):c.985A>T (p.Lys329Ter) rs1871565914
NM_005445.4(SMC3):c.283G>A (p.Glu95Lys) rs869312672
NM_005629.4(SLC6A8):c.1548C>A (p.Cys516Ter)
NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr) rs1135402761
NM_005859.5(PURA):c.503T>C (p.Leu168Pro) rs1581036449
NM_005859.5(PURA):c.710C>T (p.Ser237Phe) rs886039899
NM_005898.5(CAPRIN1):c.274C>T (p.Gln92Ter)
NM_005993.5(TBCD):c.2077C>A (p.Pro693Thr)
NM_005993.5(TBCD):c.2472-2A>G
NM_006035.4(CDC42BPB):c.3615G>A (p.Trp1205Ter) rs1346688931
NM_006306.4(SMC1A):c.3592G>A (p.Glu1198Lys) rs782175064
NM_006329.4(FBLN5):c.1117C>T (p.Arg373Cys) rs864309526
NM_006421.5(ARFGEF1):c.4257T>G (p.Tyr1419Ter)
NM_006494.4(ERF):c.517_521dup (p.Ala175fs) rs2146950390
NM_006516.4(SLC2A1):c.938C>T (p.Ser313Phe) rs794727870
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln) rs1553155986
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs) rs869312704
NM_006757.4(TNNT3):c.187C>A (p.Arg63Ser) rs199474721
NM_006767.4(LZTR1):c.993+2T>C
NM_006914.4(RORB):c.8-1G>A rs1587393982
NM_006941.4(SOX10):c.481C>T (p.Arg161Cys) rs2145768544
NM_007327.4(GRIN1):c.1922T>C (p.Met641Thr) rs1588732344
NM_012199.5(AGO1):c.1123GAG[1] (p.Glu376del) rs2148715376
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter) rs886041791
NM_014225.6(PPP2R1A):c.547C>T (p.Arg183Trp) rs1057519946
NM_014425.5(INVS):c.2949dup (p.Lys984fs) rs1588153872
NM_014491.4(FOXP2):c.1719G>A (p.Trp573Ter)
NM_014639.4(SKIC3):c.3272del (p.Ile1090_Leu1091insTer) rs752052886
NM_014795.4(ZEB2):c.3164A>G (p.Tyr1055Cys) rs1135402759
NM_014975.3(MAST1):c.278C>T (p.Ser93Leu) rs878853165
NM_015100.4(POGZ):c.1748A>G (p.His583Arg) rs1131692270
NM_015570.4(AUTS2):c.1486dup (p.Gln496fs) rs869312878
NM_015874.6(RBPJ):c.155G>C (p.Arg52Thr)
NM_016032.4(ZDHHC9):c.267del (p.Ser89fs)
NM_017635.5(KMT5B):c.2497G>T (p.Glu833Ter) rs878853164
NM_017799.4(TMEM260):c.1869+1G>T rs141599092
NM_017799.4(TMEM260):c.2082_2086AAGAA[1] (p.Lys696fs) rs568247949
NM_018486.3(HDAC8):c.737+1G>A rs869312660
NM_018489.3(ASH1L):c.1907C>G (p.Ser636Ter) rs1198775988
NM_019066.5(MAGEL2):c.3131C>A (p.Ser1044Ter) rs1267004913
NM_020338.4(ZMIZ1):c.272A>G (p.Lys91Arg) rs1554817910
NM_020719.3(PRR12):c.922_923del (p.His308fs)
NM_020922.5(WNK3):c.4000dup (p.Arg1334fs)
NM_022089.4(ATP13A2):c.1298_1299del (p.Ser433fs)
NM_022167.4(XYLT2):c.1584del (p.Gly529fs)
NM_022168.4(IFIH1):c.1178A>T (p.Asp393Val) rs587777449
NM_022552.5(DNMT3A):c.895A>C (p.Lys299Gln) rs766858016
NM_022893.4(BCL11A):c.1847del (p.Gly616fs) rs1382819519
NM_024665.7(TBL1XR1):c.809T>G (p.Phe270Cys)
NM_024757.5(EHMT1):c.3310G>A (p.Glu1104Lys) rs886041093
NM_031263.4(HNRNPK):c.1123G>T (p.Gly375Trp) rs1588412390
NM_031263.4(HNRNPK):c.364C>T (p.Gln122Ter) rs2133042086
NM_031263.4(HNRNPK):c.646-1G>A rs1564062144
NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys) rs1556914274
NM_031844.3(HNRNPU):c.67C>T (p.Arg23Ter) rs869312701
NM_032217.5(ANKRD17):c.2623G>T (p.Glu875Ter) rs1578168407
NM_032217.5(ANKRD17):c.3271del (p.Cys1091fs) rs2148721126
NM_032634.4(PIGO):c.1392delinsGA (p.Ile464fs) rs1587167234
NM_033310.3(KCNK4):c.698C>T (p.Pro233Leu) rs2034823903
NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del) rs1131692232
NM_134261.3(RORA):c.821-1G>C rs2141286878
NM_145331.3(MAP3K7):c.143G>A (p.Gly48Glu) rs1776911945
NM_152641.4(ARID2):c.109dup (p.Ile37fs) rs2137959601
NM_153717.3(EVC):c.393del (p.Asp132fs) rs1437174284
NM_170606.3(KMT2C):c.7613dup (p.Gln2539fs) rs1554496813
NM_172107.4(KCNQ2):c.1148+2T>A
NM_173495.3(PTCHD1):c.1434C>G (p.Tyr478Ter) rs751692491
NM_176787.5(PIGN):c.1557G>A (p.Trp519Ter) rs560010455
NM_178012.5(TUBB2B):c.1162A>C (p.Met388Leu) rs2113818913
NM_194454.3(KRIT1):c.1574del (p.Pro525fs) rs1584807148
NM_198282.4(STING1):c.842G>A (p.Arg281Gln) rs1561482476
NM_201378.4(PLEC):c.66C>G (p.Tyr22Ter) rs2132991341
NM_201384.3(PLEC):c.8149C>T (p.Gln2717Ter) rs1554686620
NM_205768.3(ZBTB18):c.1493A>C (p.His498Pro) rs1553270640
NM_205768.3(ZBTB18):c.160T>C (p.Cys54Arg) rs869312689
m.3697G>A rs199476122

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