ClinVar Miner

List of variants reported as likely pathogenic by Molecular Diagnostics Lab, Nemours Children's Health, Delaware

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ClinVar version:
Total variants: 239
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HGVS dbSNP gnomAD frequency
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser) rs6068812 0.00084
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303 0.00039
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile) rs200644381 0.00019
NM_018082.6(POLR3B):c.2084-6A>G rs747912710 0.00011
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00009
NM_000344.4(SMN1):c.77G>A (p.Gly26Asp) rs1170466474 0.00008
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_020435.4(GJC2):c.203A>G (p.Tyr68Cys) rs1031720654 0.00005
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_007055.4(POLR3A):c.3781G>A (p.Glu1261Lys) rs371703979 0.00004
NM_007055.4(POLR3A):c.2617-1G>A rs181087667 0.00002
NM_020435.4(GJC2):c.217C>A (p.Pro73Thr) rs1330596542 0.00002
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_005343.4(HRAS):c.266C>G (p.Ser89Cys) rs755322824 0.00001
NM_007055.4(POLR3A):c.1301dup (p.Tyr434Ter) rs1376632879 0.00001
NM_007055.4(POLR3A):c.1369G>A (p.Gly457Arg) rs768880752 0.00001
NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu) rs267608670 0.00001
NM_007055.4(POLR3A):c.3407G>A (p.Arg1136Gln) rs763270865 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_018082.6(POLR3B):c.1999G>A (p.Val667Met) rs756536922 0.00001
NM_020435.4(GJC2):c.127G>A (p.Gly43Ser) rs761544365 0.00001
NM_020435.4(GJC2):c.268C>T (p.Pro90Ser) rs74315312 0.00001
NC_000001.11:g.228149857A>G rs587777496
NC_000001.11:g.228149860A>G rs587776888
NM_000116.5(TAFAZZIN):c.109+5G>A rs2148185111
NM_000116.5(TAFAZZIN):c.109+5G>C rs2148185111
NM_000116.5(TAFAZZIN):c.124del (p.His41_Leu42insTer)
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter) rs104894941
NM_000116.5(TAFAZZIN):c.163G>T (p.Glu55Ter)
NM_000116.5(TAFAZZIN):c.171del (p.Gly58fs)
NM_000116.5(TAFAZZIN):c.222C>A (p.Asp74Glu)
NM_000116.5(TAFAZZIN):c.238+2T>G
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.280C>G (p.Arg94Gly)
NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys) rs104894942
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His) rs1060500044
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu) rs1060500044
NM_000116.5(TAFAZZIN):c.284+5G>A
NM_000116.5(TAFAZZIN):c.285G>A (p.Trp95Ter)
NM_000116.5(TAFAZZIN):c.294delinsTTAAGGACCCCT (p.Ala98_Ala99insTer)
NM_000116.5(TAFAZZIN):c.329_334del (p.Ser110_His111del)
NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)
NM_000116.5(TAFAZZIN):c.370G>C (p.Gly124Arg)
NM_000116.5(TAFAZZIN):c.51G>A (p.Trp17Ter)
NM_000116.5(TAFAZZIN):c.541+1G>T
NM_000116.5(TAFAZZIN):c.54_55del (p.Leu19fs)
NM_000116.5(TAFAZZIN):c.609T>A (p.Cys203Ter)
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg) rs1085307797
NM_000116.5(TAFAZZIN):c.688del (p.Arg230fs) rs1569552936
NM_000116.5(TAFAZZIN):c.699+1G>T
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg) rs387907218
NM_000116.5(TAFAZZIN):c.747_748insCGGGCGCCGGCGGCTCTCC (p.Glu250fs)
NM_000116.5(TAFAZZIN):c.748G>T (p.Glu250Ter)
NM_000116.5(TAFAZZIN):c.778-2A>G rs876661112
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter) rs397515750
NM_000117.3(EMD):c.46_82+6del rs1557182198
NM_000117.3(EMD):c.600G>A (p.Trp200Ter) rs1557182661
NM_000117.3(EMD):c.60del (p.Asn20fs) rs886041854
NM_000117.3(EMD):c.640_644dup (p.Gln219fs) rs1557182676
NM_000117.3(EMD):c.703_704insA (p.Phe235fs) rs1557182708
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000344.4(SMN1):c.*3+1G>A rs1290417835
NM_000344.4(SMN1):c.5C>T (p.Ala2Val) rs1554066397
NM_000344.4(SMN1):c.785G>T (p.Ser262Ile) rs1554066659
NM_000344.4(SMN1):c.796T>C (p.Ser266Pro) rs1561500885
NM_000344.4(SMN1):c.815A>G (p.Tyr272Cys) rs104893922
NM_000344.4(SMN1):c.818A>T (p.His273Leu) rs1554082114
NM_000344.4(SMN1):c.824G>A (p.Gly275Asp) rs1561500920
NM_000533.5(PLP1):c.103T>C (p.Cys35Arg)
NM_000533.5(PLP1):c.105T>A (p.Cys35Ter)
NM_000533.5(PLP1):c.110A>C (p.His37Pro)
NM_000533.5(PLP1):c.113_115del (p.Glu38del)
NM_000533.5(PLP1):c.119T>A (p.Leu40His)
NM_000533.5(PLP1):c.121A>C (p.Thr41Pro)
NM_000533.5(PLP1):c.125G>A (p.Gly42Asp)
NM_000533.5(PLP1):c.128C>T (p.Thr43Ile) rs132630289
NM_000533.5(PLP1):c.137T>C (p.Leu46Pro)
NM_000533.5(PLP1):c.140T>C (p.Ile47Thr) rs1060500909
NM_000533.5(PLP1):c.151T>G (p.Phe51Val)
NM_000533.5(PLP1):c.173A>G (p.Tyr58Cys) rs2074490307
NM_000533.5(PLP1):c.192-2A>C
NM_000533.5(PLP1):c.192-2A>G
NM_000533.5(PLP1):c.206A>T (p.Gln69Leu)
NM_000533.5(PLP1):c.221G>A (p.Gly74Glu)
NM_000533.5(PLP1):c.232TTC[2] (p.Phe80del) rs2074497991
NM_000533.5(PLP1):c.242T>G (p.Leu81Arg)
NM_000533.5(PLP1):c.254T>G (p.Leu85Arg)
NM_000533.5(PLP1):c.260T>C (p.Leu87Pro)
NM_000533.5(PLP1):c.347C>A (p.Thr116Lys)
NM_000533.5(PLP1):c.354_355del (p.Gly120fs) rs1556267123
NM_000533.5(PLP1):c.359del (p.Gly120fs)
NM_000533.5(PLP1):c.385C>T (p.Gln129Ter)
NM_000533.5(PLP1):c.409C>T (p.Arg137Trp) rs132630295
NM_000533.5(PLP1):c.412del (p.Val138fs)
NM_000533.5(PLP1):c.430A>T (p.Lys144Ter)
NM_000533.5(PLP1):c.434G>A (p.Trp145Ter) rs132630292
NM_000533.5(PLP1):c.436C>T (p.Leu146=) rs2147764616
NM_000533.5(PLP1):c.441A>T (p.Gly147=) rs1602383021
NM_000533.5(PLP1):c.44C>T (p.Pro15Leu) rs11543022
NM_000533.5(PLP1):c.453+164G>A rs1602383268
NM_000533.5(PLP1):c.453+28_453+46del
NM_000533.5(PLP1):c.453+2T>C rs1556267388
NM_000533.5(PLP1):c.453+4A>G rs1569427707
NM_000533.5(PLP1):c.453G>A (p.Lys151=) rs886044450
NM_000533.5(PLP1):c.453G>T (p.Lys151Asn)
NM_000533.5(PLP1):c.454-314T>A
NM_000533.5(PLP1):c.458del (p.Val153fs)
NM_000533.5(PLP1):c.487T>C (p.Trp163Arg) rs132630279
NM_000533.5(PLP1):c.517C>T (p.Pro173Ser)
NM_000533.5(PLP1):c.51_54del (p.Ser18fs)
NM_000533.5(PLP1):c.554_564del (p.Gln185fs)
NM_000533.5(PLP1):c.560T>C (p.Ile187Thr) rs132630288
NM_000533.5(PLP1):c.56T>C (p.Leu19Pro)
NM_000533.5(PLP1):c.619T>A (p.Tyr207Asn)
NM_000533.5(PLP1):c.619T>C (p.Tyr207His)
NM_000533.5(PLP1):c.623-2A>C
NM_000533.5(PLP1):c.628C>T (p.Leu210Phe)
NM_000533.5(PLP1):c.634T>C (p.Trp212Arg) rs2147766937
NM_000533.5(PLP1):c.644del (p.Phe215fs)
NM_000533.5(PLP1):c.647C>T (p.Pro216Leu) rs2147766958
NM_000533.5(PLP1):c.655G>T (p.Val219Phe) rs132630281
NM_000533.5(PLP1):c.656T>G (p.Val219Gly)
NM_000533.5(PLP1):c.658T>C (p.Cys220Arg)
NM_000533.5(PLP1):c.676T>C (p.Ser226Pro)
NM_000533.5(PLP1):c.697-54_711delinsTTTATT
NM_000533.5(PLP1):c.710T>C (p.Phe237Ser) rs132630291
NM_000533.5(PLP1):c.728C>A (p.Ala243Glu)
NM_000533.5(PLP1):c.730T>G (p.Phe244Val)
NM_000533.5(PLP1):c.736G>T (p.Gly246Trp)
NM_000533.5(PLP1):c.737G>C (p.Gly246Ala) rs398123467
NM_000533.5(PLP1):c.752T>C (p.Leu251Pro)
NM_000533.5(PLP1):c.758C>T (p.Ser253Phe)
NM_000533.5(PLP1):c.761T>C (p.Leu254Pro)
NM_000533.5(PLP1):c.762+3G>T rs1569428537
NM_000533.5(PLP1):c.762G>A (p.Leu254=)
NM_000533.5(PLP1):c.763-1G>T
NM_000533.5(PLP1):c.834A>G (p.Ter278Trp)
NM_000533.5(PLP1):c.834A>T (p.Ter278Cys)
NM_000533.5(PLP1):c.83G>A (p.Gly28Glu)
NM_000533.5(PLP1):c.92T>G (p.Leu31Arg)
NM_000533.5(PLP1):c.94T>C (p.Phe32Leu)
NM_001079668.3(NKX2-1):c.1025del (p.Gly342fs)
NM_001079668.3(NKX2-1):c.1040del (p.Pro347fs)
NM_001079668.3(NKX2-1):c.1045dup (p.His349fs)
NM_001079668.3(NKX2-1):c.1092_1108del (p.Ser366fs)
NM_001079668.3(NKX2-1):c.1157_1163dup (p.Thr389fs)
NM_001079668.3(NKX2-1):c.348C>A (p.Tyr116Ter)
NM_001079668.3(NKX2-1):c.348C>G (p.Tyr116Ter)
NM_001079668.3(NKX2-1):c.377_387del (p.Glu126fs)
NM_001079668.3(NKX2-1):c.432C>A (p.Tyr144Ter) rs775015070
NM_001079668.3(NKX2-1):c.481_485del (p.Pro161fs)
NM_001079668.3(NKX2-1):c.552_556del (p.Pro185fs)
NM_001079668.3(NKX2-1):c.605A>T (p.Gln202Leu)
NM_001079668.3(NKX2-1):c.611_614delinsT (p.Tyr204_Glu205delinsLeu)
NM_001079668.3(NKX2-1):c.626G>C (p.Arg209Pro)
NM_001079668.3(NKX2-1):c.701A>T (p.Gln234Leu)
NM_001079668.3(NKX2-1):c.704T>C (p.Val235Ala)
NM_001079668.3(NKX2-1):c.713G>T (p.Trp238Leu) rs28936672
NM_001079668.3(NKX2-1):c.724C>G (p.His242Asp)
NM_001079668.3(NKX2-1):c.728G>C (p.Arg243Pro)
NM_001079668.3(NKX2-1):c.822C>A (p.Cys274Ter)
NM_001079668.3(NKX2-1):c.872C>G (p.Pro291Arg) rs1057519223
NM_001079668.3(NKX2-1):c.872C>T (p.Pro291Leu) rs1057519223
NM_001079668.3(NKX2-1):c.905del (p.Ala302fs)
NM_001079668.3(NKX2-1):c.997del (p.Ala333fs)
NM_001110792.2(MECP2):c.1130_1174del (p.Glu377_Pro391del) rs1064792899
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001110792.2(MECP2):c.504C>A (p.Asp168Glu) rs61748408
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu) rs61749723
NM_001110792.2(MECP2):c.953G>A (p.Arg318His) rs61751443
NM_002734.5(PRKAR1A):c.1003C>T (p.Arg335Cys) rs1555815121
NM_002755.4(MAP2K1):c.175_177del (p.Lys59del) rs869025339
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val) rs121908596
NM_002834.5(PTPN11):c.205G>A (p.Glu69Lys) rs397507511
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_004333.6(BRAF):c.1497A>C (p.Lys499Asn) rs397507476
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys) rs180177038
NM_004333.6(BRAF):c.1574T>C (p.Leu525Pro) rs869025340
NM_004333.6(BRAF):c.1695T>G (p.Asp565Glu) rs397507480
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_005378.6(MYCN):c.1181G>T (p.Arg394Leu) rs104893648
NM_005378.6(MYCN):c.1211T>G (p.Leu404Arg)
NM_005633.4(SOS1):c.2183A>T (p.Lys728Ile) rs397517156
NM_006031.6(PCNT):c.2812C>T (p.Gln938Ter)
NM_006031.6(PCNT):c.398del (p.Phe133fs) rs1131691484
NM_006031.6(PCNT):c.5020G>T (p.Glu1674Ter) rs587784308
NM_006031.6(PCNT):c.6316_6325del (p.Leu2106fs)
NM_006031.6(PCNT):c.6564_6565del (p.Met2188fs)
NM_006031.6(PCNT):c.8018dup (p.Leu2674fs)
NM_006087.4(TUBB4A):c.1052C>T (p.Thr351Met)
NM_006087.4(TUBB4A):c.1062C>G (p.Cys354Trp) rs748787734
NM_006087.4(TUBB4A):c.1163T>C (p.Met388Thr) rs886041020
NM_006087.4(TUBB4A):c.1172G>A (p.Arg391His) rs886041021
NM_006087.4(TUBB4A):c.533C>G (p.Thr178Arg) rs587777468
NM_006087.4(TUBB4A):c.730G>A (p.Gly244Ser) rs886041007
NM_006087.4(TUBB4A):c.785G>A (p.Arg262His) rs886039470
NM_006087.4(TUBB4A):c.874C>A (p.Gln292Lys) rs886041011
NM_006517.5(SLC16A2):c.394G>T (p.Glu132Ter)
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val) rs104894936
NM_007055.4(POLR3A):c.1160C>G (p.Ala387Gly) rs1307896663
NM_007055.4(POLR3A):c.1186G>T (p.Val396Leu) rs1428468560
NM_007055.4(POLR3A):c.1674C>G (p.Phe558Leu) rs267608668
NM_007055.4(POLR3A):c.1909+18G>A rs267608677
NM_007055.4(POLR3A):c.2554A>G (p.Met852Val) rs267608671
NM_007055.4(POLR3A):c.2821A>C (p.Ser941Arg) rs1259778579
NM_007055.4(POLR3A):c.3736ACC[3] (p.Thr1247_Ser1248insThr)
NM_007055.4(POLR3A):c.3944_3945del (p.Val1315fs) rs1378008503
NM_015166.4(MLC1):c.833A>G (p.Tyr278Cys) rs1569244190
NM_018082.6(POLR3B):c.847-2A>C
NM_020435.4(GJC2):c.1134_1144del (p.Ala379fs) rs1571908452
NM_020435.4(GJC2):c.196_201del (p.Val66_Cys67del)
NM_020435.4(GJC2):c.310del (p.Arg104fs) rs1064793505
NM_020435.4(GJC2):c.357dup (p.Pro120fs)
NM_020435.4(GJC2):c.371_392dup (p.His132fs) rs2124966280
NM_020435.4(GJC2):c.575del (p.Pro192fs) rs1064795865
NM_020435.4(GJC2):c.693G>T (p.Gln231His)
NM_020435.4(GJC2):c.740G>C (p.Arg247Pro) rs1057523988
NM_020435.4(GJC2):c.755A>G (p.His252Arg) rs2124966655
NM_020435.4(GJC2):c.893_942del (p.Val298fs)
NM_020435.4(GJC2):c.907_923dup (p.Pro309fs)
NM_020435.4(GJC2):c.916_928dup (p.Ala310fs)
NM_020435.4(GJC2):c.979_983dup (p.Cys329fs)
NM_020435.4(GJC2):c.99del (p.Phe34fs)
NM_021625.5(TRPV4):c.2399G>A (p.Gly800Asp) rs1555204615
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.5(TRPV4):c.947G>A (p.Arg316His) rs387906905
NM_032581.4(HYCC1):c.145C>T (p.Gln49Ter)
NM_032581.4(HYCC1):c.169T>C (p.Cys57Arg)
NM_032581.4(HYCC1):c.414+1G>T rs72549406
NM_032581.4(HYCC1):c.722T>G (p.Leu241Ter) rs2128200575
NM_033360.4(KRAS):c.175G>T (p.Ala59Ser) rs121913528
NM_152722.5(HEPACAM):c.265G>A (p.Gly89Ser) rs387907053
NM_206937.2(LIG4):c.1277_1281del (p.Glu426fs) rs1555305016

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