ClinVar Miner

List of variants reported as likely pathogenic by Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children

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Total variants: 43
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HGVS dbSNP
NM_000117.2(EMD):c.46_82+6del43 rs1557182198
NM_000117.2(EMD):c.600G>A (p.Trp200Ter) rs1557182661
NM_000117.2(EMD):c.60del (p.Asn20fs) rs886041854
NM_000117.2(EMD):c.640_644dup (p.Gln219fs) rs1557182676
NM_000117.2(EMD):c.703_704insA (p.Phe235fs) rs1557182708
NM_000344.3(SMN1):c.*3+1G>A rs1290417835
NM_000344.3(SMN1):c.5C>T (p.Ala2Val) rs1554066397
NM_000344.3(SMN1):c.77G>A (p.Gly26Asp) rs1170466474
NM_000344.3(SMN1):c.785G>T (p.Ser262Ile) rs1554066659
NM_000344.3(SMN1):c.796T>C (p.Ser266Pro) rs1561500885
NM_000344.3(SMN1):c.815A>G (p.Tyr272Cys) rs104893922
NM_000344.3(SMN1):c.818A>T (p.His273Leu) rs1554082114
NM_000344.3(SMN1):c.824G>A (p.Gly275Asp) rs1561500920
NM_000527.4(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser) rs6068812
NM_002312.3(LIG4):c.1272_1276AAGAG[1] (p.Glu426fs) rs1555305016
NM_002734.4(PRKAR1A):c.1003C>T (p.Arg335Cys) rs1555815121
NM_002755.3(MAP2K1):c.175_177del (p.Lys59del) rs869025339
NM_002755.3(MAP2K1):c.383G>T (p.Gly128Val) rs121908596
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.4(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_004985.5(KRAS):c.175G>T (p.Ala59Ser) rs121913528
NM_004992.3(MECP2):c.1094_1138del (p.Glu365_Pro379del) rs1064792899
NM_004992.3(MECP2):c.316C>T (p.Arg106Trp) rs28934907
NM_004992.3(MECP2):c.401C>G (p.Ser134Cys) rs61748390
NM_004992.3(MECP2):c.468C>A (p.Asp156Glu) rs61748408
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.905C>T (p.Pro302Leu) rs61749723
NM_004992.3(MECP2):c.917G>A (p.Arg306His) rs61751443
NM_005343.4(HRAS):c.266C>G (p.Ser89Cys) rs755322824
NM_005378.6(MYCN):c.1181G>T (p.Arg394Leu) rs104893648
NM_005633.3(SOS1):c.2183A>T (p.Lys728Ile) rs397517156
NM_007373.3(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_021625.4(TRPV4):c.2399G>A (p.Gly800Asp) rs1555204615
NM_021625.4(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.4(TRPV4):c.947G>A (p.Arg316His) rs387906905

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