ClinVar Miner

List of variants reported as likely pathogenic by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 270
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HGVS dbSNP
NM_000016.5(ACADM):c.1052C>T (p.Thr351Ile) rs766140986
NM_000016.5(ACADM):c.577A>G (p.Thr193Ala) rs121434279
NM_000016.5(ACADM):c.599+1G>A rs866388216
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866
NM_000018.4(ACADVL):c.138+2dup rs1555527548
NM_000018.4(ACADVL):c.63-2A>C rs1555527513
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr) rs140629318
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr) rs748303093
NM_000022.4(ADA):c.58G>A (p.Gly20Arg) rs121908724
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln) rs372210292
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg) rs397514441
NM_000048.4(ASL):c.175G>A (p.Glu59Lys) rs869312985
NM_000049.3(ASPA):c.368G>A (p.Gly123Glu) rs1057521115
NM_000049.4(ASPA):c.236+2T>C
NM_000051.3(ATM):c.2639-384A>G rs1131691154
NM_000051.3(ATM):c.496+5G>A rs796051858
NM_000051.3(ATM):c.7629+2T>C rs786203059
NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp)
NM_000057.4(BLM):c.3559-1G>A rs1555424368
NM_000057.4(BLM):c.799+1G>T
NM_000057.4(BLM):c.960-1G>A rs1596223715
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556
NM_000071.2(CBS):c.1223G>A (p.Trp408Ter) rs863223433
NM_000086.2(CLN3):c.461-1G>T rs386833722
NM_000091.4(COL4A3):c.3499G>A (p.Gly1167Arg) rs267606745
NM_000091.5(COL4A3):c.4972dup (p.Ile1658fs)
NM_000094.3(COL7A1):c.3551-3T>G rs773263825
NM_000094.3(COL7A1):c.6005G>A (p.Arg2002His) rs768326843
NM_000094.3(COL7A1):c.7104+1G>A rs772756089
NM_000098.3(CPT2):c.1813G>C (p.Val605Leu)
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) rs121918528
NM_000103.4(CYP19A1):c.1303C>T (p.Arg435Cys) rs121434534
NM_000128.3(F11):c.1199C>T (p.Pro400Leu) rs533335580
NM_000128.3(F11):c.166T>C (p.Cys56Arg) rs121965069
NM_000128.3(F11):c.400C>T (p.Gln134Ter) rs756908183
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398
NM_000136.3(FANCC):c.843+1G>A rs587779909
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_000136.3(FANCC):c.996+1G>T rs370510954
NM_000151.4(G6PC1):c.467G>T (p.Trp156Leu) rs1189630738
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser) rs375867319
NM_000153.4(GALC):c.560A>T (p.Asp187Val) rs997021099
NM_000155.4(GALT):c.598del (p.Gln200fs) rs111033738
NM_000155.4(GALT):c.983G>A (p.Arg328His) rs111033802
NM_000156.6(GAMT):c.407C>T (p.Thr136Met) rs374724533
NM_000157.4(GBA):c.1171G>C (p.Val391Leu) rs398123527
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000170.2(GLDC):c.2033_2035del (p.Ala678del) rs769625871
NM_000170.2(GLDC):c.2216G>A (p.Arg739His) rs121964980
NM_000182.5(HADHA):c.703C>T (p.Arg235Trp) rs786204607
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) rs779339230
NM_000199.5(SGSH):c.812C>T (p.Thr271Met) rs746776254
NM_000203.5(IDUA):c.1829-1G>A rs745915863
NM_000203.5(IDUA):c.590-7G>A rs762411583
NM_000232.4(SGCB):c.271C>T (p.Arg91Cys) rs555514820
NM_000253.3(MTTP):c.1868-2A>G rs760547155
NM_000253.4(MTTP):c.1618C>T (p.Arg540Cys)
NM_000255.4(MMUT):c.1956+2T>C rs750619189
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) rs876657655
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) rs201539845
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) rs397516332
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly) rs1057517978
NM_000271.5(NPC1):c.3493G>A (p.Val1165Met) rs748862167
NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu) rs753419933
NM_000277.3(PAH):c.212G>A (p.Arg71His) rs62508695
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg) rs1444049793
NM_000287.4(PEX6):c.1287del (p.Trp430fs) rs1258472160
NM_000287.4(PEX6):c.2362+1G>A rs1443107232
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val)
NM_000288.4(PEX7):c.340-10A>G rs267608255
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter) rs1064795749
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys) rs746610168
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141
NM_000318.3(PEX2):c.310dup (p.Ile104fs) rs1235008965
NM_000349.3(STAR):c.661G>A (p.Gly221Ser) rs139081695
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His) rs769279368
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg) rs137852676
NM_000359.3(TGM1):c.420A>G (p.Ile140Met) rs139208806
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr) rs143010236
NM_000383.4(AIRE):c.1095+2T>C rs760280615
NM_000383.4(AIRE):c.1203_1278+28del
NM_000383.4(AIRE):c.652+1G>T rs199612115
NM_000383.4(AIRE):c.798+1G>A rs138489664
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr) rs587777443
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer) rs758055753
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu) rs747076316
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer) rs1398892633
NM_000478.6(ALPL):c.1171del (p.Arg391fs) rs751404811
NM_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679
NM_000486.5(AQP2):c.190G>A (p.Gly64Arg) rs104894326
NM_000492.3(CFTR):c.1210-2_1210-1del rs1562894926
NM_000492.3(CFTR):c.2909_2924dup
NM_000492.3(CFTR):c.2932A>T (p.Lys978Ter) rs193922514
NM_000492.3(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110
NM_000492.3(CFTR):c.4242+2T>C rs193922526
NM_000492.3(CFTR):c.4272C>G (p.Tyr1424Ter) rs1800135
NM_000492.3(CFTR):c.619C>T (p.Gln207Ter) rs397508771
NM_000492.3(CFTR):c.742A>G (p.Arg248Gly) rs1554380515
NM_000492.3(CFTR):c.869+5G>A rs533959068
NM_000498.3(CYP11B2):c.594A>C (p.Glu198Asp) rs104894072
NM_000517.4(HBA2):c.142G>C (p.Asp48His) rs281864834
NM_000517.4(HBA2):c.427T>G (p.Ter143Glu) rs41464951
NM_000517.6(HBA2):c.69C>T (p.Gly23=) rs63751457
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) rs33960103
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=) rs587779406
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738
NM_000527.4(LDLR):c.1586+5G>C rs781362878
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser) rs758194385
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu) rs746808159
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln) rs778742647
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser)
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser) rs587779408
NM_000558.3(HBA1):c.389T>C (p.Leu130Pro) rs35993655
NM_000558.5(HBA1):c.358C>T (p.Pro120Ser) rs63750751
NM_000642.3(AGL):c.293+1del rs777857395
NM_000709.4(BCKDHA):c.288+9C>T rs398123497
NM_001017420.3(ESCO2):c.1132-7A>G rs80359862
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys) rs377025174
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys) rs121908578
NM_001126105.2(SLC7A7):c.1460del (p.Cys487fs) rs386833809
NM_001126108.2(SLC12A3):c.1763C>T (p.Ala588Val) rs121909382
NM_001126108.2(SLC12A3):c.248G>A (p.Arg83Gln) rs768527231
NM_001126108.2(SLC12A3):c.2660G>A (p.Arg887Gln) rs369360334
NM_001126108.2(SLC12A3):c.2721-1G>A rs761242621
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val) rs140551719
NM_001127671.2(LIFR):c.912_915del (p.Ile304fs) rs1561159768
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052
NM_001142800.2(EYS):c.1057-1G>A rs776564041
NM_001142800.2(EYS):c.2137+1G>A rs199740930
NM_001142800.2(EYS):c.3443+1G>T rs373441420
NM_001142800.2(EYS):c.3878-2A>G rs752930400
NM_001142800.2(EYS):c.7055+1G>A rs1582079626
NM_001142800.2(EYS):c.749-1G>C
NM_001165927.1(MKS1):c.160+2T>C rs375170572
NM_001271208.2(NEB):c.13060-2A>G
NM_001271208.2(NEB):c.13476+1G>A rs1578868550
NM_001271208.2(NEB):c.22594C>T (p.Arg7532Ter) rs760935667
NM_001271208.2(NEB):c.22695+2T>C rs200449517
NM_001271208.2(NEB):c.23847+2T>C rs545937015
NM_001271208.2(NEB):c.23848-1G>C rs797045098
NM_001287174.2(ABCC8):c.3403-1G>A rs576684889
NM_001360.2(DHCR7):c.1138T>C (p.Cys380Arg) rs373306653
NM_001360.2(DHCR7):c.440G>A (p.Gly147Asp) rs777425801
NM_001360.2(DHCR7):c.655T>G (p.Tyr219Asp) rs779896782
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102
NM_001378454.1(ALMS1):c.12115-2A>T
NM_001378454.1(ALMS1):c.9782-1G>A
NM_001384474.1(LOXHD1):c.4794_4795insTC (p.Ile1599fs) rs1598914701
NM_001499.2(GLE1):c.1706G>A (p.Arg569His) rs121434407
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln) rs769236847
NM_001875.5(CPS1):c.4274+2T>C rs1374322297
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg) rs121913037
NM_002076.4(GNS):c.1308+2T>C
NM_002225.5(IVD):c.148C>T (p.Arg50Cys) rs34695403
NM_002225.5(IVD):c.287-1G>A rs1398838997
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg) rs375401970
NM_002437.5(MPV17):c.260AGA[1] (p.Lys88del) rs267607263
NM_002437.5(MPV17):c.408+1G>A rs749361266
NM_002454.3(MTRR):c.1769+1G>A
NM_002485.4(NBN):c.320+1G>A rs1364533250
NM_002485.4(NBN):c.37+1G>A rs574673404
NM_002485.4(NBN):c.481-2A>T rs751567476
NM_002485.4(NBN):c.702+1G>C rs1057517104
NM_003060.4(SLC22A5):c.1250dup (p.Met417fs) rs781330134
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu) rs1178584184
NM_003640.5(ELP1):c.3346+1G>A rs760774999
NM_003742.4(ABCB11):c.2343+1G>T
NM_003907.3(EIF2B5):c.1946T>C (p.Ile649Thr) rs1064794256
NM_003907.3(EIF2B5):c.896G>A (p.Arg299His) rs113994060
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter) rs111033420
NM_004453.4(ETFDH):c.1211T>C (p.Met404Thr) rs779253471
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly) rs549150456
NM_004646.3(NPHS1):c.2227C>T (p.Arg743Cys) rs386833909
NM_004646.3(NPHS1):c.2404C>T (p.Arg802Trp) rs386833911
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro) rs113994206
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) rs121909254
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr) rs387906347
NM_005476.7(GNE):c.694del (p.Met232fs) rs1554661549
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys) rs757681143
NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg) rs769172044
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg) rs398124209
NM_005609.4(PYGM):c.2083G>A (p.Gly695Arg) rs768604948
NM_005957.5(MTHFR):c.548G>A rs574132670
NM_006118.3(HAX1):c.317-2A>G rs371504152
NM_007123.5(USH2A):c.3812-3_3837dup rs780071028
NM_012144.4(DNAI1):c.1163G>A (p.Cys388Tyr) rs767667443
NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser) rs79833450
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys) rs180177322
NM_013339.4(ALG6):c.902+1G>A rs1036516188
NM_014049.4(ACAD9):c.1552C>T rs150283105
NM_014049.5(ACAD9):c.1240C>T (p.Arg414Cys) rs777282696
NM_014049.5(ACAD9):c.151-1_151del
NM_014049.5(ACAD9):c.514G>A (p.Gly172Arg) rs761102100
NM_014252.4(SLC25A15):c.823C>T (p.Arg275Ter) rs202247807
NM_015272.5(RPGRIP1L):c.1421del (p.Asn474fs) rs760952407
NM_015506.3(MMACHC):c.578T>C (p.Leu193Pro) rs1233135084
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter) rs201183360
NM_016955.4(SEPSECS):c.766G>T (p.Gly256Ter) rs779387647
NM_017739.3(POMGNT1):c.652+1G>T rs386834035
NM_018006.5(TRMU):c.1102-3C>G rs753039116
NM_019098.4(CNGB3):c.467C>T (p.Ser156Phe) rs139207764
NM_020166.5(MCCC1):c.640-2A>G rs772395858
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala) rs143389605
NM_020320.5(RARS2):c.943C>T (p.Arg315Ter) rs199835443
NM_020533.3(MCOLN1):c.694A>C (p.Thr232Pro) rs767122713
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn) rs121908351
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472
NM_023036.6(DNAI2):c.610+1G>A rs758109864
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg) rs761389904
NM_024312.5(GNPTAB):c.203+2T>C rs1594242785
NM_024312.5(GNPTAB):c.637-6T>G
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985
NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter) rs1565809409
NM_025114.4(CEP290):c.4437+1G>A rs760915898
NM_025114.4(CEP290):c.4813-2A>G rs369523378
NM_025114.4(CEP290):c.5012+2T>C rs1369768287
NM_025114.4(CEP290):c.6358-1G>A rs766670248
NM_025136.4(OPA3):c.52C>T (p.Gln18Ter) rs1568413644
NM_031885.4(BBS2):c.2107C>T (p.Arg703Ter) rs567573386
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp) rs121908316
NM_032957.4(RTEL1):c.2941C>T (p.Arg981Trp) rs398123018
NM_032957.4(RTEL1):c.442C>T (p.Arg148Ter) rs80224512
NM_052845.4(MMAB):c.584G>A (p.Arg195His) rs756195708
NM_054012.4(ASS1):c.539G>T (p.Ser180Ile) rs121908638
NM_057176.3(BSND):c.22C>T (p.Arg8Trp) rs74315285
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) rs267606762
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu) rs202047589
NM_138694.4(PKHD1):c.1032_1033del (p.Glu345fs) rs1446729264
NM_138694.4(PKHD1):c.1233+1G>A rs886061623
NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter) rs779050294
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu) rs367707903
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr) rs753307105
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr) rs794727566
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs) rs771180444
NM_138694.4(PKHD1):c.6809-2A>T rs1340926191
NM_144612.6(LOXHD1):c.3061+1G>A rs537227442
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp) rs759408031
NM_152443.3(RDH12):c.912G>A (p.Trp304Ter)
NM_152564.5(VPS13B):c.11510_11513dup (p.Gly3839fs) rs1588811810
NM_153006.3(NAGS):c.1268+2T>C rs202041339
NM_153676.4(USH1C):c.1020-2A>C rs147956944
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) rs121908143
NM_182760.4(SUMF1):c.602+1G>A
NM_182760.4(SUMF1):c.726-1_726del rs1575196325
NM_201548.5(CERKL):c.2T>C (p.Met1Thr) rs1187991259
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser) rs569826109
NM_206933.3(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814
NM_206933.3(USH2A):c.10859T>C (p.Ile3620Thr) rs779716464
NM_206933.3(USH2A):c.12284G>A (p.Gly4095Asp) rs759898765
NM_206933.3(USH2A):c.15017C>T (p.Thr5006Met) rs757676723
NM_206933.4(USH2A):c.15297+1G>C
NR_003051.3(RMRP):n.-21_-9dupACTCTGTGAAGCT rs751921616
NR_003051.3(RMRP):n.-24_-10dup rs727502776
NR_003051.3(RMRP):n.-24_-12dup rs781730798
NR_003051.3(RMRP):n.212C>G rs192060920

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