ClinVar Miner

List of variants reported as likely pathogenic by Undiagnosed Diseases Network, NIH

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ClinVar version:
Total variants: 195
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HGVS dbSNP gnomAD frequency
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_016648.4(LARP7):c.651G>C (p.Glu217Asp) rs141178932 0.00846
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln) rs41282065 0.00267
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val) rs145451123 0.00098
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_001145165.2(DOHH):c.455C>T (p.Pro152Leu) rs553950608 0.00044
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter) rs139455627 0.00027
NM_016648.4(LARP7):c.320C>T (p.Thr107Ile) rs200393300 0.00026
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro) rs374746113 0.00019
NM_019109.5(ALG1):c.1187+3A>G rs369160589 0.00013
NM_005186.4(CAPN1):c.1605+5G>A rs375817528 0.00012
NM_004204.5(PIGQ):c.942+1G>A rs200661329 0.00006
NM_015602.4(TOR1AIP1):c.1427C>T (p.Ala476Val) rs201518227 0.00006
NM_001382567.1(STIM1):c.1681C>T (p.Arg561Cys) rs142239530 0.00005
NM_001395891.1(CLASP1):c.196-602C>T rs863225422 0.00005
NM_001395891.1(CLASP1):c.196-678C>T rs544312701 0.00004
NM_015909.4(NBAS):c.2423+404G>C rs1019313682 0.00004
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu) rs761879076 0.00004
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=) rs146539065 0.00004
NM_017827.4(SARS2):c.1347G>A (p.Thr449=) rs200404654 0.00004
NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile) rs622288 0.00004
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) rs61753219 0.00003
NM_006441.4(MTHFS):c.484C>T (p.Gln162Ter) rs771379232 0.00003
NM_024306.5(FA2H):c.133G>T (p.Gly45Trp) rs1247665387 0.00003
NM_001395891.1(CLASP1):c.196-672A>G rs863225423 0.00002
NM_002437.5(MPV17):c.376-9T>G rs368900406 0.00002
NM_006441.4(MTHFS):c.434G>A (p.Arg145Gln) rs753635972 0.00002
NM_000023.4(SGCA):c.957-11C>G rs1391089933 0.00001
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter) rs1010184002 0.00001
NM_001163435.3(TBCK):c.456-2A>G rs780527809 0.00001
NM_001267550.2(TTN):c.16054G>A (p.Asp5352Asn) rs1190242728 0.00001
NM_001277115.2(DNAH11):c.2966G>A (p.Arg989Gln) rs1178187217 0.00001
NM_001378183.1(PIEZO2):c.1528-1G>A rs1555648288 0.00001
NM_001903.5(CTNNA1):c.2191C>T (p.Arg731Ter) rs1401839892 0.00001
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys) rs587784347 0.00001
NM_005932.4(MIPEP):c.358G>A (p.Asp120Asn) rs780533096 0.00001
NM_006759.4(UGP2):c.34A>G (p.Met12Val) rs768305634 0.00001
NM_007289.4(MME):c.202C>T (p.Arg68Ter) rs201692212 0.00001
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln) rs199564797 0.00001
NM_024580.6(EFL1):c.379A>G (p.Thr127Ala) rs1441937959 0.00001
NM_052867.4(NALCN):c.2579+5G>A rs2035187622 0.00001
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp) rs387907260 0.00001
NM_153033.5(KCTD7):c.456G>A (p.Val152=) rs796052686 0.00001
GRCh38/hg38 6q25.3(chr6:157179172-157184916)x1
NC_000014.9:g.35044389_35052476del
NC_000014.9:g.35077780_35087566del
NC_000017.11:g.59679324_59702065del
NC_012920.1(MT-CYB):m.591C>T rs2124590812
NC_012920.1(MT-ND1):m.3502T>C rs1603218987
NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe) rs63750687
NM_000033.4(ABCD1):c.2035T>A (p.Trp679Arg) rs1557055405
NM_000043.6(FAS):c.197-2A>G rs1564691414
NM_000138.5(FBN1):c.6998-13A>G rs2042989627
NM_000334.4(SCN4A):c.3403C>A (p.Arg1135Ser) rs1287863349
NM_000393.5(COL5A2):c.568-316_3525+41del
NM_000459.5(TEK):c.578A>G (p.Tyr193Cys) rs1587545234
NM_000465.4(BARD1):c.860_861del (p.Glu287fs) rs786201868
NM_000489.6(ATRX):c.5449-7A>G rs2067371776
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu) rs137854539
NM_000660.7(TGFB1):c.512A>G (p.Tyr171Cys) rs1599893542
NM_000719.7(CACNA1C):c.4087G>C (p.Val1363Leu) rs1555968941
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala) rs797044849
NM_001042424.3(NSD2):c.957G>T (p.Arg319Ser) rs1577434780
NM_001042681.2(RERE):c.4304A>G (p.His1435Arg) rs1553154130
NM_001069.3(TUBB2A):c.394G>A (p.Gly132Ser) rs1064795249
NM_001080442.3(SLC38A8):c.913T>C (p.Ser305Pro) rs1057521634
NM_001080472.4(FITM2):c.576del (p.Val193fs)
NM_001098511.3(KIF2A):c.938G>A (p.Gly313Glu) rs1561273261
NM_001099857.5(IKBKG):c.519-2A>C rs2071121693
NM_001127222.2(CACNA1A):c.4052G>T (p.Arg1351Leu) rs1555745467
NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro) rs1568447650
NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro) rs1057519429
NM_001134407.3(GRIN2A):c.2452G>A (p.Ala818Thr) rs1555483699
NM_001161.5(NUDT2):c.186del (p.Ala63fs) rs529087882
NM_001163435.2(TBCK):c.2060-9050_2235+26133del
NM_001260.3(CDK8):c.586A>T (p.Thr196Ser)
NM_001267550.2(TTN):c.102956_102958del (p.Thr34319del) rs878854378
NM_001267550.2(TTN):c.44516del (p.Asp14839fs) rs2058865334
NM_001303256.3(MORC2):c.1265A>G (p.Glu422Gly) rs2040680054
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001303457.2(TTI1):c.1271A>G (p.His424Arg)
NM_001318852.2(MAPK8IP3):c.111C>G (p.Tyr37Ter) rs770703007
NM_001323289.2(CDKL5):c.2762_2763del (p.Thr921fs) rs1927146242
NM_001323289.2(CDKL5):c.2828_2829del (p.Arg943fs) rs1555955290
NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr) rs1057524820
NM_001356.5(DDX3X):c.1537G>C (p.Val513Leu) rs2063927856
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys) rs1555954284
NM_001371727.1(GABRB2):c.904G>A (p.Val302Met) rs1085307993
NM_001371986.1(UNC80):c.8772+2T>G rs1553621496
NM_001376.5(DYNC1H1):c.4868G>A (p.Arg1623Gln) rs1064796765
NM_001378452.1(ITPR1):c.5980-17G>A rs2046415471
NM_001378454.1(ALMS1):c.4743C>G (p.Tyr1581Ter) rs1572935708
NM_001382241.1(TNPO2):c.1643C>T (p.Ser548Phe) rs2145492753
NM_001385012.1(NBEA):c.5899G>A (p.Gly1967Arg) rs1594162606
NM_001395891.1(CLASP1):c.196-670T>C rs982261295
NM_001614.5(ACTG1):c.611C>G (p.Ala204Gly) rs11549225
NM_001690.4(ATP6V1A):c.1123C>A (p.Pro375Thr) rs1559759089
NM_001844.5(COL2A1):c.3165+2_3166-84del rs1938789358
NM_001845.6(COL4A1):c.2450G>A (p.Gly817Glu) rs1878013473
NM_001845.6(COL4A1):c.4357C>T (p.Gln1453Ter) rs2139146179
NM_001848.3(COL6A1):c.809_811del (p.Glu270_Arg271delinsGly) rs1569518070
NM_001904.4(CTNNB1):c.1016_1025delinsT (p.Thr339_Arg342delinsIle) rs1559470315
NM_002107.7(H3-3A):c.377A>G (p.Gln126Arg) rs1276519904
NM_002465.4(MYBPC1):c.776T>C (p.Leu259Pro) rs1421405659
NM_002539.3(ODC1):c.1313_1316del (p.Pro438fs) rs1671795191
NM_002547.3(OPHN1):c.1361G>A (p.Arg454Lys) rs1602169116
NM_002608.4(PDGFB):c.598C>T (p.Arg200Ter) rs1932260742
NM_002875.5(RAD51):c.772G>A (p.Glu258Lys) rs1555429629
NM_003011.4(SET):c.340_341del (p.Glu114fs) rs1861593395
NM_003107.3(SOX4):c.1040C>A (p.Ser347Ter) rs2113558441
NM_003108.4(SOX11):c.293del (p.Phe98fs) rs1558373252
NM_003470.3(USP7):c.2169_2170del (p.Arg723fs) rs1555462347
NM_003632.3(CNTNAP1):c.1163G>C (p.Arg388Pro) rs779027563
NM_003709.4(KLF7):c.790G>A (p.Asp264Asn) rs1057518995
NM_003718.5(CDK13):c.181del (p.Leu61fs) rs1554317002
NM_003718.5(CDK13):c.2524A>G (p.Asn842Asp) rs1554333853
NM_003797.5(EED):c.1097T>C (p.Met366Thr) rs1565706229
NM_004113.6(FGF12):c.148G>A (p.Gly50Ser) rs1553798675
NM_004333.6(BRAF):c.1592G>T (p.Trp531Leu) rs397507478
NM_004360.5(CDH1):c.2245C>T (p.Arg749Trp) rs776975632
NM_004586.3(RPS6KA3):c.646A>G (p.Lys216Glu) rs1555939456
NM_004618.5(TOP3A):c.899_900del (p.Tyr300fs) rs1597981046
NM_005032.7(PLS3):c.583-3C>A rs2147551714
NM_005052.3(RAC3):c.34G>C (p.Gly12Arg) rs2043431490
NM_005236.3(ERCC4):c.2371_2398dup (p.Ile800fs) rs397509401
NM_005559.4(LAMA1):c.9197del (p.Phe3066fs) rs1555640521
NM_005591.4(MRE11):c.1500+1153_1563+1027del
NM_005632.3(CAPN15):c.2206C>T (p.Arg736Ter)
NM_005660.3(SLC35A2):c.245G>T (p.Cys82Phe) rs1557043622
NM_005677.4(COLQ):c.718-1276C>T rs2062220124
NM_005859.5(PURA):c.299T>C (p.Leu100Pro) rs587782995
NM_005859.5(PURA):c.493G>A (p.Gly165Ser) rs1561793272
NM_006003.3(UQCRFS1):c.215-1G>C rs1568344751
NM_006079.5(CITED2):c.701A>C (p.Glu234Ala) rs1583066622
NM_006087.4(TUBB4A):c.1062C>G (p.Cys354Trp) rs748787734
NM_006180.6(NTRK2):c.1301A>G (p.Tyr434Cys) rs886041091
NM_006295.3(VARS1):c.2590_2592delinsTGA (p.Ser864Ter)
NM_006796.3(AFG3L2):c.1749G>A (p.Trp583Ter)
NM_006940.6(SOX5):c.224_225del (p.Gln75fs)
NM_006946.4(SPTBN2):c.1276_1278del (p.Leu426del) rs1590955348
NM_012062.5(DNM1L):c.2094TCT[1] (p.Leu700del) rs2137612089
NM_014225.6(PPP2R1A):c.96C>G (p.Ile32Met)
NM_014365.3(HSPB8):c.520_533del (p.Tyr174fs) rs1565930588
NM_014604.4(TAX1BP3):c.233T>C (p.Met78Thr) rs1307997067
NM_014727.3(KMT2B):c.4931G>T (p.Cys1644Phe) rs1555731819
NM_015021.3(ZNF292):c.6578A>C (p.Tyr2193Ser) rs1554208945
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His) rs1554504663
NM_015378.4(VPS13D):c.12242T>C (p.Val4081Ala)
NM_015570.4(AUTS2):c.1603C>T (p.His535Tyr) rs1563183492
NM_015836.4(WARS2):c.148G>T (p.Gly50Cys) rs11552864
NM_016653.3(MAP3K20):c.834CAA[1] (p.Asn279del) rs2106303300
NM_017534.6(MYH2):c.5673+1G>C rs1400481053
NM_017827.4(SARS2):c.1055A>C (p.Glu352Ala) rs1600163739
NM_018077.3(RBM28):c.1489_1492dup (p.Val498fs)
NM_018116.4(MSTO1):c.676C>T (p.Gln226Ter) rs1208636573
NM_018684.4(ZC4H2):c.53+10513C>T rs1931569117
NM_019109.5(ALG1):c.876C>G (p.Phe292Leu) rs1009298200
NM_019109.5(ALG1):c.877T>C (p.Ser293Pro) rs1555452127
NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp) rs745886248
NM_020988.3(GNAO1):c.662C>A (p.Ala221Asp) rs1555507479
NM_024496.4(IRF2BPL):c.1259T>C (p.Phe420Ser) rs1566785990
NM_024496.4(IRF2BPL):c.2122del (p.Ala708fs) rs1566785444
NM_024496.4(IRF2BPL):c.514G>T (p.Glu172Ter) rs1448259271
NM_024496.4(IRF2BPL):c.519C>G (p.Tyr173Ter) rs1555377415
NM_024496.4(IRF2BPL):c.562C>T (p.Arg188Ter) rs1345176461
NM_024757.5(EHMT1):c.2516G>T (p.Gly839Val) rs1554888939
NM_024818.6(UBA5):c.562C>T (p.Arg188Ter) rs374052333
NM_030632.3(ASXL3):c.1082+1781_3039+950del
NM_030662.4(MAP2K2):c.395G>A (p.Gly132Asp) rs387906800
NM_030912.3(TRIM8):c.1375C>T (p.Gln459Ter) rs866294686
NM_030948.3:c.251-63908_415+29843dup
NM_031263.4(HNRNPK):c.203T>G (p.Leu68Arg) rs1588432187
NM_031263.4(HNRNPK):c.214-35A>G rs1554700718
NM_032119.4(ADGRV1):c.12511G>T (p.Gly4171Cys) rs1581088032
NM_032536.4(NTNG2):c.858-13G>A rs1840794100
NM_032856.5(WDR73):c.884G>A (p.Gly295Asp) rs1596048227
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) rs730880471
NM_134261.3(RORA):c.821-17_827delinsGCTTTCGTGTTTG rs1595874995
NM_138383.3(MTSS2):c.2011C>T (p.Arg671Trp) rs753688777
NM_138773.4(SLC25A46):c.385-852_385-739del rs1580858058
NM_138773.4(SLC25A46):c.992T>C (p.Leu331Pro) rs1580870952
NM_144991.3(TSPEAR):c.1726_1728delinsTT (p.Val576fs) rs1569151872
NM_145207.3(AFG2A):c.164-1053_446+1328dup
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243
NM_170707.4(LMNA):c.1157+23_1158-45del rs1572363509
NM_170707.4(LMNA):c.937-22_937-10del rs886043199
NM_177972.3(TUB):c.1215+1G>A rs1589996458
NM_178526.5(SLC25A42):c.309C>G (p.Tyr103Ter) rs1568523935
NM_183065.4(TMEM107):c.*609G>A rs200531412
NM_183065.4(TMEM107):c.*745C>G rs746503581
NM_183357.3(ADCY5):c.3622C>T (p.Arg1208Cys)
NM_183381.3(RNF13):c.919G>T (p.Glu307Ter)
Single allele

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