ClinVar Miner

List of variants reported as likely pathogenic by Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli

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ClinVar version:
Total variants: 121
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HGVS dbSNP gnomAD frequency
NM_015570.4(AUTS2):c.1717C>T (p.Pro573Ser) rs1051952947 0.00005
NM_004928.3(CFAP410):c.286G>A (p.Glu96Lys) rs774614339 0.00002
NM_000202.8(IDS):c.1477C>T (p.Arg493Cys) rs782190885 0.00001
NM_001029896.2(WDR45):c.695G>A (p.Arg232His) rs781978699 0.00001
NM_015959.4(TMX2):c.392del (p.Leu131fs) rs758529293 0.00001
NM_015959.4(TMX2):c.454C>T (p.Arg152Trp) rs960444778 0.00001
NM_000163.5(GHR):c.476T>A (p.Leu159Ter) rs961681338
NM_000163.5(GHR):c.875+5G>A rs2111832452
NM_000738.3(CHRM1):c.1274T>C (p.Phe425Ser) rs2135039016
NM_000814.6(GABRB3):c.916A>G (p.Ile306Val) rs1889965563
NM_000834.5(GRIN2B):c.2555del (p.Gly852fs) rs2136409494
NM_000834.5(GRIN2B):c.2825del (p.Thr942fs) rs2136406056
NM_001009944.3(PKD1):c.5977_5979del (p.Thr1993del) rs2151790460
NM_001032382.2(PQBP1):c.181G>A (p.Gly61Arg) rs2147471872
NM_001039591.3(USP9X):c.1986-1G>T rs2147113534
NM_001039591.3(USP9X):c.4726T>A (p.Tyr1576Asn) rs2147201709
NM_001040142.2(SCN2A):c.3711del (p.Ile1238fs) rs2105365149
NM_001069.3(TUBB2A):c.1172G>A (p.Arg391His) rs1057521250
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln) rs886039472
NM_001110556.2(FLNA):c.514C>T (p.Leu172Phe) rs2148119399
NM_001111125.3(IQSEC2):c.3463C>T (p.Arg1155Trp) rs2074117985
NM_001113498.3(MDGA2):c.278_279dup (p.Ala94fs)
NM_001128.6(AP1G1):c.43C>T (p.Arg15Trp)
NM_001128840.3(CACNA1D):c.1955C>T (p.Ser652Leu) rs777591848
NM_001130438.3(SPTAN1):c.5832+1G>C rs2131851851
NM_001134407.3(GRIN2A):c.1497+5G>C rs2042665872
NM_001145358.2(SIN3A):c.3179A>G (p.Asp1060Gly) rs2141396034
NM_001145358.2(SIN3A):c.3785_3791del (p.Tyr1262fs)
NM_001190274.2(FBXO11):c.1340G>C (p.Arg447Thr) rs2104807871
NM_001190274.2(FBXO11):c.1523A>G (p.His508Arg) rs2104739052
NM_001197104.2(KMT2A):c.3472T>C (p.Cys1158Arg) rs2134287093
NM_001202.6(BMP4):c.666del (p.Arg223fs) rs2140235147
NM_001282531.3(ADNP):c.2193_2197delinsA (p.Leu732fs)
NM_001282531.3(ADNP):c.2491_2494del (p.Leu831fs) rs587777522
NM_001282531.3(ADNP):c.2712dup (p.Asn905Ter) rs2122740067
NM_001292034.3(TAB2):c.548C>T (p.Pro183Leu)
NM_001330260.2(SCN8A):c.4911T>G (p.Ile1637Met) rs2138942487
NM_001330723.2(SNX27):c.782dup (p.Leu262fs) rs2102681464
NM_001330723.2(SNX27):c.989G>A (p.Arg330His) rs1670312400
NM_001347721.2(DYRK1A):c.1015G>A (p.Gly339Arg) rs2053152079
NM_001352913.2(PPP2R5C):c.563A>G (p.His188Arg) rs2140894443
NM_001356.5(DDX3X):c.1423C>T (p.Arg475Cys) rs1064794574
NM_001371928.1(AHDC1):c.1122dup (p.Gly375fs) rs749294057
NM_001371928.1(AHDC1):c.877G>T (p.Glu293Ter) rs2148291547
NM_001374828.1(ARID1B):c.2581+5G>A rs1554298239
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=) rs797045277
NM_001376.5(DYNC1H1):c.6872T>G (p.Val2291Gly)
NM_001377275.1(PER3):c.1998dup (p.Met667fs) rs2151127625
NM_001379403.1(WDR26):c.1163-1G>A rs2102912948
NM_001389.5(DSCAM):c.4216G>A (p.Gly1406Ser) rs2146568828
NM_001519.4(BRF1):c.875C>G (p.Pro292Arg) rs606231450
NM_001791.4(CDC42):c.509A>G (p.Asp170Gly) rs2124053783
NM_001822.7(CHN1):c.643G>A (p.Gly215Arg)
NM_001904.4(CTNNB1):c.703G>A (p.Gly235Arg) rs2125623412
NM_002024.6(FMR1):c.1268_1269del (p.Tyr423fs)
NM_002024.6(FMR1):c.866C>T (p.Pro289Leu) rs2124521655
NM_002074.5(GNB1):c.217G>A (p.Ala73Thr)
NM_003403.5(YY1):c.1036G>T (p.Val346Phe)
NM_003545.4(H4C5):c.136C>T (p.Arg46Cys) rs950721550
NM_003601.4(SMARCA5):c.934A>G (p.Arg312Gly)
NM_003907.3(EIF2B5):c.862C>G (p.His288Asp) rs2109008895
NM_004380.3(CREBBP):c.5367C>G (p.Asn1789Lys) rs2151311363
NM_004380.3(CREBBP):c.6113_6137dup (p.Ala2047fs) rs1596784713
NM_004586.3(RPS6KA3):c.298A>T (p.Lys100Ter) rs2148721855
NM_004606.5(TAF1):c.4276A>G (p.Met1426Val) rs2148488085
NM_004859.4(CLTC):c.4481del (p.Ser1494fs) rs2143600670
NM_005120.3(MED12):c.1379T>C (p.Leu460Ser) rs2147785143
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp) rs1057523906
NM_005445.4(SMC3):c.2002TAT[1] (p.Tyr669del) rs2134745289
NM_005654.6(NR2F1):c.1024G>A (p.Glu342Lys) rs2149946003
NM_005654.6(NR2F1):c.320A>G (p.Lys107Arg) rs2149941608
NM_005859.5(PURA):c.221A>G (p.Tyr74Cys) rs2126748837
NM_005862.3(STAG1):c.1117C>T (p.Arg373Ter) rs2107814279
NM_006218.4(PIK3CA):c.2816A>G (p.Asp939Gly) rs2108424902
NM_006265.3(RAD21):c.628G>T (p.Glu210Ter) rs2130469189
NM_006494.4(ERF):c.157G>A (p.Gly53Arg) rs2036425566
NM_006766.5(KAT6A):c.3353-1G>A rs1351334408
NM_006852.6(TLK2):c.1637G>A (p.Arg546Gln) rs2147165727
NM_006852.6(TLK2):c.754C>T (p.Gln252Ter) rs2146338937
NM_006908.5(RAC1):c.218C>T (p.Pro73Leu) rs2115201441
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_013275.6(ANKRD11):c.5146G>T (p.Glu1716Ter)
NM_013436.5(NCKAP1):c.155del (p.Asn52fs)
NM_014141.6(CNTNAP2):c.686_688del (p.Glu229del) rs2129279561
NM_014225.6(PPP2R1A):c.539T>G (p.Met180Arg) rs1600167941
NM_014225.6(PPP2R1A):c.655T>C (p.Ser219Pro) rs2089686081
NM_014271.4(IL1RAPL1):c.1046T>C (p.Leu349Pro) rs2147239911
NM_014712.3(SETD1A):c.7C>T (p.Gln3Ter)
NM_014795.4(ZEB2):c.982C>T (p.His328Tyr) rs2149877525
NM_015021.3(ZNF292):c.6145del (p.Ser2049fs)
NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter) rs879255404
NM_015176.4(FBXO28):c.1043G>T (p.Arg348Leu) rs1553292987
NM_015215.4(CAMTA1):c.4231C>T (p.Arg1411Ter) rs886041635
NM_015335.5(MED13L):c.6583C>T (p.His2195Tyr) rs2137182061
NM_016120.4(RLIM):c.366G>C (p.Trp122Cys) rs866839831
NM_016148.5(SHANK1):c.1882_1883del (p.Lys628fs)
NM_016532.4(INPP5K):c.653G>A (p.Trp218Ter)
NM_016532.4(INPP5K):c.925A>G (p.Ser309Gly)
NM_017541.4(CRYGS):c.23T>A (p.Ile8Asn) rs2108743641
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_017635.5(KMT5B):c.1175-6_1183del rs2153041094
NM_017635.5(KMT5B):c.1569_1570del (p.Gly524fs) rs2153040709
NM_017649.5(CNNM2):c.1804C>T (p.Arg602Ter) rs2134338484
NM_017780.4(CHD7):c.2352dup (p.Asn785fs)
NM_017934.7(PHIP):c.1137-7_1140del rs2127741611
NM_017934.7(PHIP):c.894G>A (p.Trp298Ter)
NM_019597.5(HNRNPH2):c.460del (p.Glu154fs)
NM_021120.4(DLG3):c.1520+1G>T rs2147842365
NM_022552.5(DNMT3A):c.1490G>T (p.Cys497Phe) rs779323387
NM_024665.7(TBL1XR1):c.1043A>G (p.His348Arg) rs1576994053
NM_024725.4(CCDC82):c.67C>T (p.Arg23Ter)
NM_030630.3(HID1):c.1149+1G>T rs2144810359
NM_032271.3(TRAF7):c.1873C>G (p.Leu625Val) rs2141298772
NM_033343.4(LHX4):c.171T>G (p.Cys57Trp) rs2149256470
NM_057175.5(NAA15):c.1549G>C (p.Glu517Gln)
NM_057175.5(NAA15):c.1798_1801del (p.Arg600fs) rs2110977312
NM_130811.4(SNAP25):c.164-252del
NM_152641.4(ARID2):c.2659C>T (p.Gln887Ter)
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_182641.4(BPTF):c.5455del (p.Thr1819fs)
NM_205768.3(ZBTB18):c.1306C>T (p.Arg436Cys) rs1698434969

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