ClinVar Miner

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

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Total variants: 128
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HGVS dbSNP gnomAD frequency
NM_000344.4(SMN1):c.5C>G (p.Ala2Gly) rs1554066397 0.00571
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp) rs114368325 0.00079
NM_005199.5(CHRNG):c.459dup (p.Val154fs) rs774279192 0.00048
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) rs111033199 0.00019
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_005199.5(CHRNG):c.401_402del (p.Pro134fs) rs747067203 0.00011
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter) rs104894419 0.00007
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter) rs114073621 0.00002
NM_000344.4(SMN1):c.835-3C>T rs772466166 0.00001
NM_000782.5(CYP24A1):c.1039C>T (p.Gln347Ter) rs777947329 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_006031.6(PCNT):c.2728C>T (p.Gln910Ter) rs869312917 0.00001
NM_006031.6(PCNT):c.3594_3598dup (p.Leu1200fs) rs869312929 0.00001
NC_000006.12:g.(?_10875891)_(10881865_?)del
NC_000013.11:g.(?_90698351)_(90699137_?)del
NC_000019.10:g.(?_11200038)_(11200291_?)del
NC_000023.10:g.(?_154379237)_(154381523_?)del
NM_000116.5(TAFAZZIN):c.110-2A>G rs1603376833
NM_000116.5(TAFAZZIN):c.236G>A (p.Trp79Ter)
NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter) rs1603377945
NM_000116.5(TAFAZZIN):c.461-2A>G rs876661038
NM_000116.5(TAFAZZIN):c.497T>A (p.Leu166Ter)
NM_000116.5(TAFAZZIN):c.517del (p.Asp173fs)
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg) rs132630277
NM_000116.5(TAFAZZIN):c.703dup (p.Ile235fs)
NM_000116.5(TAFAZZIN):c.777+1G>A rs2068606932
NM_000116.5(TAFAZZIN):c.868_872dup (p.Arg292fs)
NM_000117.3(EMD):c.121_155del (p.Tyr41fs) rs1557182286
NM_000117.3(EMD):c.130C>T (p.Gln44Ter) rs132630262
NM_000117.3(EMD):c.187+1G>T rs794729010
NM_000117.3(EMD):c.251_255del (p.Leu84fs) rs782452523
NM_000117.3(EMD):c.419T>A (p.Leu140Ter) rs1057524848
NM_000117.3(EMD):c.512C>A (p.Ser171Ter) rs886044901
NM_000117.3(EMD):c.621del (p.Pro208fs) rs1557182670
NM_000117.3(EMD):c.674_678del (p.Leu225fs) rs1557182692
NM_000117.3(EMD):c.82+1G>T rs1557182214
NM_000344.3(SMN1):c.274_284del11 rs1561499612
NM_000344.4(SMN1):c.283G>C (p.Gly95Arg) rs104893927
NM_000344.4(SMN1):c.305G>A (p.Trp102Ter) rs77804083
NM_000344.4(SMN1):c.332C>G (p.Ala111Gly) rs104893935
NM_000344.4(SMN1):c.399_402del (p.Glu134fs) rs77668214
NM_000344.4(SMN1):c.419A>T (p.Asp140Val) rs1554081968
NM_000344.4(SMN1):c.48_55dup (p.Val19fs) rs1561498701
NM_000344.4(SMN1):c.510_511del (p.Ser170fs) rs1561499720
NM_000344.4(SMN1):c.570G>A (p.Trp190Ter) rs1561499737
NM_000344.4(SMN1):c.584del (p.Pro195fs) rs1561499748
NM_000344.4(SMN1):c.724-2A>G rs1561500842
NM_000344.4(SMN1):c.770_780dup (p.Gly261fs) rs1561500847
NM_000344.4(SMN1):c.801G>A (p.Trp267Ter)
NM_000344.4(SMN1):c.835-2A>G rs141760116
NM_000344.4(SMN1):c.93_96dup (p.Ile33Ter) rs1554081950
NM_000388.4(CASR):c.428G>A (p.Gly143Glu) rs121909264
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) rs104893689
NM_000441.2(SLC26A4):c.1154_1156delinsCAGCAACATCTTCTCAGGATTCTTCTC (p.Phe385_Ile386delinsSerAlaThrSerSerGlnAspSerSerLeu)
NM_000527.4(LDLR):c.(1705+1_1706-1)_(2140+1_2141-1)del
NM_000782.5(CYP24A1):c.364G>T (p.Glu122Ter)
NM_000782.5(CYP24A1):c.641-1G>A
NM_001079668.3(NKX2-1):c.196del (p.Ala66fs)
NM_001079668.3(NKX2-1):c.216del (p.Arg72fs)
NM_001079668.3(NKX2-1):c.336_345del (p.Val113fs)
NM_001079668.3(NKX2-1):c.344del (p.Gly115fs) rs587776709
NM_001079668.3(NKX2-1):c.423del (p.Gly142fs)
NM_001079668.3(NKX2-1):c.456_457delinsACGG (p.Phe152fs)
NM_001079668.3(NKX2-1):c.464-2A>G rs587776708
NM_001079668.3(NKX2-1):c.464-9C>A
NM_001079668.3(NKX2-1):c.474del (p.Phe158fs)
NM_001079668.3(NKX2-1):c.583del (p.Arg195fs)
NM_001079668.3(NKX2-1):c.612C>A (p.Tyr204Ter)
NM_001079668.3(NKX2-1):c.613G>T (p.Glu205Ter) rs137852693
NM_001079668.3(NKX2-1):c.617T>A (p.Leu206Gln) rs1555349221
NM_001079668.3(NKX2-1):c.622C>T (p.Arg208Ter)
NM_001079668.3(NKX2-1):c.647del (p.Leu216fs)
NM_001079668.3(NKX2-1):c.650C>A (p.Ser217Ter)
NM_001079668.3(NKX2-1):c.664G>T (p.Glu222Ter) rs1555349209
NM_001079668.3(NKX2-1):c.711C>G (p.Ile237Met)
NM_001110792.2(MECP2):c.1060_1061insAG (p.Pro354fs) rs1060499620
NM_001110792.2(MECP2):c.1065del (p.Arg356fs) rs61751457
NM_001110792.2(MECP2):c.1125_1165del (p.Lys376fs) rs1064792898
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1194_*261del (p.Pro399fs) rs1557134621
NM_001110792.2(MECP2):c.1216_1241del (p.Glu406fs) rs267608333
NM_001110792.2(MECP2):c.239C>G (p.Ser80Ter) rs267608438
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.714del (p.Gln239fs) rs1060499621
NM_001110792.2(MECP2):c.746dup (p.Gly250fs) rs61749743
NM_001110792.2(MECP2):c.772_779delinsGTG (p.Met258fs) rs267608520
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.801_1194del (p.Lys268fs) rs1557135734
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) rs121918470
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) rs180177039
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004752.4(GCM2):c.408C>A (p.Tyr136Ter) rs1554103179
NM_004752.4(GCM2):c.456+2dup rs759190203
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_005199.5(CHRNG):c.420G>A (p.Trp140Ter)
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.35G>T (p.Gly12Val) rs104894230
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) rs104894226
NM_005378.6(MYCN):c.1014C>A (p.Tyr338Ter) rs367962377
NM_005378.6(MYCN):c.1061dup (p.Ser355fs) rs1553370963
NM_005378.6(MYCN):c.68_71dup (p.Gln25fs) rs1553370260
NM_005378.6(MYCN):c.902_903del (p.Val301fs) rs1553370918
NM_005378.6(MYCN):c.964C>T (p.Arg322Ter) rs759103701
NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys) rs397517159
NM_005633.4(SOS1):c.806T>C (p.Met269Thr) rs137852813
NM_005676.5(RBM10):c.159del (p.Lys54fs) rs1556770954
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His) rs77975504
NM_021625.5(TRPV4):c.2396C>T (p.Pro799Leu) rs121912637
NM_206937.2(LIG4):c.1512_1513del (p.Arg505fs) rs759838407

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