ClinVar Miner

List of variants reported for not provided by Molecular Diagnostics Lab, Nemours Children's Health, Delaware

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Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_000782.5(CYP24A1):c.470G>A (p.Arg157Gln) rs35051736 0.00377
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser) rs6068812 0.00084
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp) rs114368325 0.00079
NM_000344.4(SMN1):c.77G>A (p.Gly26Asp) rs1170466474 0.00008
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter) rs104894419 0.00007
NM_000782.5(CYP24A1):c.1039C>T (p.Gln347Ter) rs777947329 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 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_005343.4(HRAS):c.266C>G (p.Ser89Cys) rs755322824 0.00001
NC_000006.12:g.(?_10875891)_(10881865_?)del
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.46_82+6del rs1557182198
NM_000117.3(EMD):c.512C>A (p.Ser171Ter) rs886044901
NM_000117.3(EMD):c.600G>A (p.Trp200Ter) rs1557182661
NM_000117.3(EMD):c.60del (p.Asn20fs) rs886041854
NM_000117.3(EMD):c.621del (p.Pro208fs) rs1557182670
NM_000117.3(EMD):c.640_644dup (p.Gln219fs) rs1557182676
NM_000117.3(EMD):c.703_704insA (p.Phe235fs) rs1557182708
NM_000344.3(SMN1):c.274_284del11 rs1561499612
NM_000344.4(SMN1):c.*3+1G>A rs1290417835
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.316G>A (p.Gly106Ser) rs1561499628
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.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.5C>T (p.Ala2Val) rs1554066397
NM_000344.4(SMN1):c.796T>C (p.Ser266Pro) rs1561500885
NM_000344.4(SMN1):c.818A>T (p.His273Leu) rs1554082114
NM_000344.4(SMN1):c.821C>T (p.Thr274Ile) rs1554066666
NM_000344.4(SMN1):c.824G>A (p.Gly275Asp) rs1561500920
NM_000344.4(SMN1):c.866G>A (p.Cys289Tyr) rs765273240
NM_000344.4(SMN1):c.873T>A (p.His291Gln) rs1561503207
NM_000344.4(SMN1):c.93_96dup (p.Ile33Ter) rs1554081950
NM_000388.4(CASR):c.428G>A (p.Gly143Glu) rs121909264
NM_000782.5(CYP24A1):c.425AAG[1] (p.Glu143del) rs777676129
NM_000782.5(CYP24A1):c.469C>T (p.Arg157Trp) rs35873579
NM_001110792.2(MECP2):c.801_1194del (p.Lys268fs) rs1557135734
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_002755.4(MAP2K1):c.175_177del (p.Lys59del) rs869025339
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val) rs121908596
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.205G>A (p.Glu69Lys) rs397507511
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.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.1502A>G (p.Glu501Gly) rs180177039
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_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004752.4(GCM2):c.456+2dup rs759190203
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys) rs397517159
NM_005633.4(SOS1):c.806T>C (p.Met269Thr) rs137852813
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His) rs77975504
NM_021625.5(TRPV4):c.2399G>A (p.Gly800Asp) rs1555204615
NM_021625.5(TRPV4):c.947G>A (p.Arg316His) rs387906905
NM_033360.4(KRAS):c.175G>T (p.Ala59Ser) rs121913528
NM_206937.2(LIG4):c.1277_1281del (p.Glu426fs) rs1555305016
NM_206937.2(LIG4):c.1512_1513del (p.Arg505fs) rs759838407

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