ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Victorian Clinical Genetics Services, Murdoch Childrens Research Institute and "pathogenic" from any submitter

Minimum review status of the submission from Victorian Clinical Genetics Services, Murdoch Childrens Research Institute: Collection method of the submission from Victorian Clinical Genetics Services, Murdoch Childrens Research Institute:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 82
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HGVS dbSNP gnomAD frequency
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765 0.00136
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg) rs35201073 0.00128
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026 0.00105
NM_001086521.2(NDUFAF8):c.195+271C>T rs745332456 0.00063
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu) rs139644798 0.00044
NM_024339.5(THOC6):c.298T>A (p.Trp100Arg) rs138632121 0.00020
NM_024339.5(THOC6):c.824G>A (p.Gly275Asp) rs200426926 0.00020
NM_053013.4(ENO3):c.467G>A (p.Gly156Asp) rs121918403 0.00019
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) rs34647222 0.00014
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu) rs199795381 0.00014
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr) rs199773340 0.00012
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966 0.00012
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His) rs184435771 0.00011
NM_033419.5(PGAP3):c.558-10G>A rs200598755 0.00009
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) rs771487311 0.00007
NM_000053.4(ATP7B):c.1285+5G>T rs370579582 0.00005
NM_016239.4(MYO15A):c.6046+1G>A rs201978571 0.00005
NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His) rs145999922 0.00004
NM_152416.4(NDUFAF6):c.532G>C (p.Ala178Pro) rs201088736 0.00004
NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln) rs773204795 0.00003
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061 0.00003
NM_183075.3(CYP2U1):c.1462C>T (p.Arg488Trp) rs141431913 0.00003
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_001012339.3(DNAJC21):c.983+1G>A rs368148362 0.00002
NM_015214.3(DDHD2):c.724C>T (p.Arg242Cys) rs1380005347 0.00002
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp) rs760345680 0.00002
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln) rs180177203 0.00001
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg) rs773515249 0.00001
NM_000136.3(FANCC):c.1533+1G>C rs753885687 0.00001
NM_000138.5(FBN1):c.4460-8G>A rs193922204 0.00001
NM_001458.5(FLNC):c.3791-1G>C rs781135153 0.00001
NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter) rs781984979 0.00001
NM_004646.4(NPHS1):c.1555C>T (p.Pro519Ser) rs386833884 0.00001
NM_005002.5(NDUFA9):c.1078C>T (p.Arg360Cys) rs3210083 0.00001
NM_005518.4(HMGCS2):c.1499G>A (p.Arg500His) rs137852639 0.00001
NM_005787.6(ALG3):c.286G>A (p.Gly96Arg) rs367679074 0.00001
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile) rs747895516 0.00001
NM_203290.4(POLR1C):c.88C>T (p.Pro30Ser) rs1057519455 0.00001
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu) rs762773076
NM_000152.5(GAA):c.1214T>C (p.Leu405Pro) rs2143857207
NM_000238.4(KCNH2):c.1814C>T (p.Pro605Leu) rs199472938
NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu) rs587783766
NM_000307.5(POU3F4):c.845G>T (p.Arg282Leu) rs1060499806
NM_000426.4(LAMA2):c.8244+3_8244+6del rs746678525
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr) rs758166013
NM_001032221.6(STXBP1):c.37+2dup rs1838431452
NM_001042475.3(CEP85L):c.193G>A (p.Asp65Asn) rs1774229245
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys) rs267606933
NM_001312673.2(PCYT1A):c.990del (p.Ser331fs) rs587777193
NM_001368894.2(PAX6):c.141G>T (p.Gln47His) rs2135147324
NM_001371246.1(SCN2A):c.634A>G (p.Asn212Asp) rs1553567473
NM_001845.6(COL4A1):c.3592G>A (p.Gly1198Arg) rs2139156247
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp) rs1064792872
NM_002526.4(NT5E):c.1608dup (p.Val537fs) rs774200574
NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala) rs397507519
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr) rs398123697
NM_003542.4(H4C3):c.275A>G (p.Lys92Arg) rs2113784630
NM_003998.4(NFKB1):c.730+4A>G rs869320688
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln) rs534388496
NM_006715.4(MAN2C1):c.2733_2734del (p.His911fs) rs763231900
NM_006772.3(SYNGAP1):c.1676+1G>A rs2151172748
NM_006785.4(MALT1):c.926_929delGAAG
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser) rs1747669042
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) rs1057523157
NM_015915.5(ATL1):c.1306A>G (p.Asn436Asp) rs2140239163
NM_016239.4(MYO15A):c.10247CCT[1] (p.Ser3417del) rs760069953
NM_017446.4(MRPL39):c.526del (p.Ser176fs)
NM_018105.3(THAP1):c.85C>T (p.Arg29Ter) rs2128918641
NM_018161.5(NADSYN1):c.524G>A (p.Cys175Tyr) rs764123669
NM_024685.4(BBS10):c.1337_1338del (p.Phe446fs) rs1389599028
NM_025137.4(SPG11):c.2444G>A (p.Arg815Lys)
NM_025137.4(SPG11):c.6754+2_6754+3dup rs759090170
NM_138694.4(PKHD1):c.1602+1G>A rs398124476
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_144773.4(PROKR2):c.58del (p.His20fs) rs587777834
NM_153676.4(USH1C):c.388-1G>A rs1364331716
NM_198565.3(NRROS):c.1981del (p.Leu661fs) rs1737685202

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