ClinVar Miner

List of variants reported as likely pathogenic by Institute of Human Genetics, University of Goettingen

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ClinVar version:
Total variants: 182
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HGVS dbSNP gnomAD frequency
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser) rs201346206 0.00038
NM_000158.4(GBE1):c.721A>G (p.Met241Val) rs747155575 0.00001
NM_000372.5(TYR):c.1101C>A (p.His367Gln) rs139091458 0.00001
NM_003179.3(SYP):c.2T>C (p.Met1Thr) rs1557103814 0.00001
NM_004722.4(AP4M1):c.142del (p.Val48fs) rs764326593 0.00001
NM_014946.4(SPAST):c.1738A>G (p.Ile580Val) rs1259072587 0.00001
NM_022124.6(CDH23):c.8146del (p.Asp2716fs) rs1564804195 0.00001
NM_198994.3(TGM6):c.1005G>A (p.Trp335Ter) rs750743855 0.00001
GRCh37/hg19 12p13.33(chr12:1345909-1476210)x1
GRCh37/hg19 22q11.22-11.23(chr22:22998284-25119103)x3
GRCh37/hg19 6q16.1(chr6:96028232-97247130)x1
GRCh37/hg19 7q21.3(chr7:95931567-97254397)x1
GRCh37/hg19 8p23.2-23.1(chr8:2308926-6939296)x3
NM_000020.3(ACVRL1):c.578T>C (p.Leu193Pro) rs1555152790
NM_000020.3(ACVRL1):c.626-1G>T
NM_000033.4(ABCD1):c.851C>T (p.Ser284Leu) rs2091711722
NM_000051.4(ATM):c.1372_1397dup (p.Gln466fs) rs2135320462
NM_000051.4(ATM):c.4820del (p.Pro1607fs) rs2135834949
NM_000059.4(BRCA2):c.4738dup (p.Cys1580fs)
NM_000088.4(COL1A1):c.2758G>A (p.Gly920Ser) rs2144550235
NM_000088.4(COL1A1):c.562G>T (p.Gly188Cys)
NM_000116.5(TAFAZZIN):c.215G>T (p.Cys72Phe)
NM_000142.5(FGFR3):c.1663G>T (p.Val555Leu) rs1474187970
NM_000152.5(GAA):c.2772del (p.Asn925fs)
NM_000162.5(GCK):c.1178T>C (p.Met393Thr) rs2096271425
NM_000166.6(GJB1):c.42C>G (p.Asn14Lys) rs1262031967
NM_000217.3(KCNA1):c.966T>A (p.Ser322Arg)
NM_000238.4(KCNH2):c.2675_2679dup (p.Arg894fs) rs1131692183
NM_000238.4(KCNH2):c.76+2T>A rs794728419
NM_000256.3(MYBPC3):c.1225A>T (p.Lys409Ter) rs1114167419
NM_000260.4(MYO7A):c.272del (p.Asp91fs)
NM_000260.4(MYO7A):c.3602G>A (p.Cys1201Tyr) rs117966637
NM_000264.5(PTCH1):c.735dup (p.Ala246fs)
NM_000287.4(PEX6):c.386A>T (p.Glu129Val) rs1561831003
NM_000297.4(PKD2):c.773T>C (p.Leu258Pro) rs2110104859
NM_000390.4(CHM):c.1402del (p.Ser468fs)
NM_000426.4(LAMA2):c.7750-2A>G rs778539477
NM_000496.3(CRYBB2):c.562C>T (p.Arg188Cys) rs2146095454
NM_000516.7(GNAS):c.231del (p.Gln78fs)
NM_000535.7(PMS2):c.2233del (p.Ile745fs)
NM_000540.3(RYR1):c.1654C>T (p.Arg552Trp) rs193922770
NM_000540.3(RYR1):c.9345del (p.Ser3116fs) rs2145663047
NM_000701.8(ATP1A1):c.2809_2819del (p.Cys937fs) rs1653448255
NM_000702.4(ATP1A2):c.1477C>T (p.Arg493Ter) rs534696343
NM_000834.5(GRIN2B):c.3391del (p.Asp1131fs)
NM_001002295.2(GATA3):c.332_333dup (p.Trp112fs)
NM_001005242.3(PKP2):c.928_938dup (p.Ser313fs) rs2137946568
NM_001005373.4(LRSAM1):c.2027_2033del (p.Val676fs)
NM_001018005.2(TPM1):c.256G>A (p.Ala86Thr) rs2034911718
NM_001031710.3(KLHL7):c.223+5G>C rs2128460058
NM_001031710.3(KLHL7):c.815T>C (p.Leu272Pro) rs2128466903
NM_001039591.3(USP9X):c.1511C>T (p.Ala504Val)
NM_001040142.2(SCN2A):c.4492del (p.Tyr1498fs)
NM_001048174.2(MUTYH):c.169C>G (p.His57Asp)
NM_001079872.2(CUL4B):c.2403del (p.Phe801fs)
NM_001098.3(ACO2):c.1831_1833delinsC (p.Asp611fs)
NM_001098.3(ACO2):c.36G>A (p.Gln12=)
NM_001101.5(ACTB):c.179G>A (p.Ser60Asn) rs755437923
NM_001114753.3(ENG):c.780_789dup (p.Asp264fs) rs1588581846
NM_001130438.3(SPTAN1):c.316G>A (p.Gly106Arg) rs1564197227
NM_001130438.3(SPTAN1):c.4460A>T (p.His1487Leu) rs1589311413
NM_001130438.3(SPTAN1):c.466C>T (p.Arg156Ter)
NM_001134363.3(RBM20):c.3147del (p.Lys1050fs) rs1844915022
NM_001134673.4(NFIA):c.352G>C (p.Asp118His) rs1570123287
NM_001145073.3(USP27X):c.954del (p.Lys318fs)
NM_001162501.2(TNRC6B):c.3282dup (p.Phe1095fs)
NM_001163435.3(TBCK):c.468C>G (p.Tyr156Ter)
NM_001165963.4(SCN1A):c.314C>A (p.Thr105Asn)
NM_001170629.2(CHD8):c.1658C>A (p.Ser553Ter)
NM_001170629.2(CHD8):c.3725G>A (p.Arg1242Gln) rs2139467378
NM_001170629.2(CHD8):c.7094G>A (p.Trp2365Ter) rs752374375
NM_001172509.2(SATB2):c.1743dup (p.Leu582fs)
NM_001190274.2(FBXO11):c.1669G>A (p.Gly557Arg)
NM_001199753.2(CPT1C):c.2T>G (p.Met1Arg) rs751933977
NM_001267550.2(TTN):c.68169_68171dup (p.Tyr22724Ter)
NM_001270.4(CHD1):c.643dup (p.Ser215fs)
NM_001271.4(CHD2):c.3542G>T (p.Cys1181Phe) rs2141861661
NM_001273.5(CHD4):c.1895_1896del
NM_001278116.2(L1CAM):c.215A>C (p.Asp72Ala)
NM_001288705.3(CSF1R):c.69dup (p.Glu24fs)
NM_001308120.2(TOGARAM1):c.2338+3A>G
NM_001348800.3(ZBTB20):c.1727dup (p.Pro577fs) rs2108200372
NM_001349338.3(FOXP1):c.1078_1079del (p.Glu360fs)
NM_001367721.1(CASK):c.2155+1G>C rs1555977199
NM_001370298.3(FGD4):c.1573dup (p.Ser525fs)
NM_001371727.1(GABRB2):c.986T>A (p.Ile329Asn) rs1753821661
NM_001372044.2(SHANK3):c.1871G>C (p.Arg624Pro) rs2083140726
NM_001372066.1(TFAP2A):c.773C>T (p.Ala258Val) rs151344531
NM_001374828.1(ARID1B):c.2078del (p.Leu693fs) rs2128210949
NM_001374828.1(ARID1B):c.6103del (p.Ser2035fs)
NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met) rs1559718601
NM_001378743.1(CYLD):c.2616del (p.His871_Tyr872insTer)
NM_001614.5(ACTG1):c.493A>G (p.Ile165Val) rs2031770749
NM_001709.5(BDNF):c.557G>A (p.Cys186Tyr) rs1852795747
NM_001844.5(COL2A1):c.1502G>A (p.Gly501Glu)
NM_001854.4(COL11A1):c.1473_1475inv (p.Met492Ter)
NM_001904.4:c.1_1081del
NM_002334.4(LRP4):c.2814+1G>A
NM_002430.3(MN1):c.1363A>T (p.Lys455Ter)
NM_002739.5(PRKCG):c.347A>G (p.His116Arg) rs2068657131
NM_002742.3(PRKD1):c.1905+2T>A rs2139090218
NM_003070.5(SMARCA2):c.3457-2A>T rs1823192606
NM_003482.4(KMT2D):c.1395dup (p.Arg466fs) rs1565820584
NM_003482.4(KMT2D):c.2515G>T (p.Glu839Ter) rs781145102
NM_003482.4(KMT2D):c.543dup (p.Ile182fs) rs1938252967
NM_003491.4(NAA10):c.347G>A (p.Arg116Gln) rs2065169655
NM_003611.3(OFD1):c.1603_1604del (p.Leu535fs) rs1569145145
NM_003722.5(TP63):c.3G>T (p.Met1Ile) rs1028553870
NM_003754.3(EIF3F):c.671C>T (p.Pro224Leu) rs1185010700
NM_003816.3(ADAM9):c.1616del (p.Cys539fs)
NM_003995.4(NPR2):c.2794C>T (p.Arg932Cys) rs760285654
NM_004035.7(ACOX1):c.541G>A (p.Gly181Arg)
NM_004281.4(BAG3):c.670dup (p.Ser224fs) rs1135402750
NM_004456.5(EZH2):c.2213C>A (p.Ala738Asp) rs1131692184
NM_004523.4(KIF11):c.376dup (p.Thr126fs) rs2135901156
NM_004722.4(AP4M1):c.498del (p.Ser167fs) rs766513025
NM_004859.4(CLTC):c.1824T>G (p.Tyr608Ter)
NM_004959.5(NR5A1):c.1063G>A (p.Val355Met)
NM_004984.4(KIF5A):c.799T>C (p.Ser267Pro) rs1131692233
NM_005141.5(FGB):c.490+1G>C rs111502670
NM_005324.5(H3-3B):c.68C>G (p.Thr23Arg) rs2143631320
NM_005422.4(TECTA):c.5510G>A (p.Cys1837Tyr) rs1947056659
NM_005585.5(SMAD6):c.531C>G (p.Tyr177Ter) rs760571406
NM_005654.6(NR2F1):c.1097G>A (p.Arg366His) rs1753373048
NM_005654.6(NR2F1):c.340G>C (p.Val114Leu)
NM_005677.4(COLQ):c.1340A>T (p.Asp447Val)
NM_005732.4(RAD50):c.2367_2375del (p.Asp791_Thr793del)
NM_006009.4(TUBA1A):c.1084G>C (p.Val362Leu) rs1942166073
NM_006516.4(SLC2A1):c.1260G>T (p.Met420Ile)
NM_006618.5(KDM5B):c.998_1004del (p.Ser333fs)
NM_012154.5(AGO2):c.2479G>T (p.Gly827Ter)
NM_012330.4(KAT6B):c.5002A>G (p.Ser1668Gly)
NM_013275.6(ANKRD11):c.4997dup (p.Asn1666fs)
NM_014112.5(TRPS1):c.1817C>T (p.Ser606Phe) rs1817974591
NM_014208.3(DSPP):c.368_371delinsAACATATGTTCATCATGGGAAAGAAGAAA (p.Gly123fs) rs1727756750
NM_014875.3(KIF14):c.14G>T (p.Ser5Ile) rs1256629719
NM_014946.4(SPAST):c.314del (p.Pro105fs) rs2148685718
NM_015100.4(POGZ):c.2545+2del rs2102155019
NM_015267.4(CUX2):c.560del (p.Lys187fs)
NM_015346.4(ZFYVE26):c.2639T>C (p.Leu880Pro) rs2039789225
NM_015557.3(CHD5):c.3187G>A (p.Glu1063Lys)
NM_015629.4(PRPF31):c.945+2T>G rs2146437002
NM_016169.4(SUFU):c.946_952del (p.Leu316fs)
NM_016580.4(PCDH12):c.2675del (p.Gly892fs)
NM_017613.3(DONSON):c.[1466A>C];[536_540delCACAG]
NM_017613.4(DONSON):c.48del (p.Glu17fs) rs2145910302
NM_017763.6(RNF43):c.2308+1G>T
NM_017780.4(CHD7):c.2910_2925del (p.Glu970_Tyr971insTer) rs1554597507
NM_017780.4(CHD7):c.4985del (p.Ser1662fs) rs1060499937
NM_018486.3(HDAC8):c.1081C>T (p.Arg361Ter) rs1555948969
NM_018486.3(HDAC8):c.1112-2A>G rs1131690790
NM_018489.3(ASH1L):c.1948del (p.Gly651fs)
NM_020061.6(OPN1LW):c.764_765del (p.Glu255fs)
NM_020338.4(ZMIZ1):c.1030_1031dup (p.Ser345fs) rs2132037242
NM_021076.4(NEFH):c.883+1G>C rs1602961831
NM_021975.4(RELA):c.1310C>G (p.Ser437Ter)
NM_022336.4(EDAR):c.442T>C (p.Cys148Arg) rs1181378221
NM_022455.5(NSD1):c.2889_2890del (p.His963fs)
NM_022455.5(NSD1):c.3418_3419del (p.Val1140fs) rs1763367673
NM_022455.5(NSD1):c.3686C>G (p.Ser1229Ter) rs1763389239
NM_022455.5(NSD1):c.4776del (p.Cys1593fs)
NM_022455.5(NSD1):c.5066G>C (p.Cys1689Ser) rs1756866850
NM_022489.4(INF2):c.286del (p.Leu96fs)
NM_024306.5(FA2H):c.115_121del (p.Phe39fs) rs2144672568
NM_030632.3(ASXL3):c.3894dup (p.Cys1299fs)
NM_030662.4(MAP2K2):c.191T>G (p.Val64Gly) rs1135401787
NM_032119.4(ADGRV1):c.3941T>A (p.Leu1314Ter)
NM_052867.4(NALCN):c.3808C>T (p.Gln1270Ter) rs2033656475
NM_052988.5(CDK10):c.729del (p.Glu244fs) rs2060622260
NM_133497.4(KCNV2):c.153T>G (p.Tyr51Ter) rs950492553
NM_152722.5(HEPACAM):c.442C>T (p.Pro148Ser) rs1555055028
NM_170707.4(LMNA):c.164A>G (p.Glu55Gly) rs2102817930
NM_172107.4(KCNQ2):c.725G>A (p.Cys242Tyr) rs2081191454
NM_181503.3(EXOSC8):c.734dup (p.Ala246fs) rs773616244
NM_181503.3(EXOSC8):c.89_91del (p.Gly30del) rs764339075
NM_182931.3(KMT2E):c.3489dup (p.Lys1164Ter) rs1479029169
NM_194248.3(OTOF):c.5179del (p.Arg1727fs) rs1664580718
NM_198880.3(QRICH1):c.68C>T (p.Pro23Leu) rs2106983539
NM_206933.4(USH2A):c.199T>G (p.Cys67Gly) rs2102788868
NM_206933.4(USH2A):c.2168-1G>T
NM_207346.3(TSEN54):c.1535T>C (p.Phe512Ser) rs1598480419
NM_212482.4(FN1):c.7144+1G>A

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