ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Victorian Clinical Genetics Services, Murdoch Childrens Research Institute and "uncertain significance" 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: 56
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HGVS dbSNP gnomAD frequency
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_000055.2(BCHE):c.1253G>T (p.Gly418Val) rs28933390 0.00310
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_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
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_005908.4(MANBA):c.1499G>A (p.Arg500His) rs147542645 0.00014
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_000035.4(ALDOB):c.911G>A (p.Arg304Gln) rs145078268 0.00013
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_000275.3(OCA2):c.1363A>G (p.Arg455Gly) rs200764804 0.00010
NM_001164508.2(NEB):c.22590+2T>C rs200449517 0.00009
NM_016239.4(MYO15A):c.6764+2T>A rs763975867 0.00009
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys) rs376469502 0.00008
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) rs771487311 0.00007
NM_152783.5(D2HGDH):c.1243G>A (p.Val415Met) rs371794611 0.00006
NM_001289808.2(CRYAB):c.32G>A (p.Arg11His) rs782809283 0.00004
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) rs780296175 0.00003
NM_000170.3(GLDC):c.445C>T (p.Arg149Trp) rs183024300 0.00002
NM_001012339.3(DNAJC21):c.983+1G>A rs368148362 0.00002
NM_002296.4(LBR):c.1747C>T (p.Arg583Ter) rs1057516045 0.00002
NM_015214.3(DDHD2):c.724C>T (p.Arg242Cys) rs1380005347 0.00002
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu) rs191201723 0.00002
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly) rs893497345 0.00002
NM_015166.4(MLC1):c.240G>A (p.Met80Ile) rs281875310 0.00001
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn) rs767270134 0.00001
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu) rs1555202697 0.00001
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile) rs747895516 0.00001
NM_000018.4(ACADVL):c.722A>G (p.Tyr241Cys) rs575789958
NM_000138.5(FBN1):c.4787G>C (p.Arg1596Pro) rs769588424
NM_000138.5(FBN1):c.5788+5G>T rs193922219
NM_000235.4(LIPA):c.1052ACG[1] (p.Asp352del) rs767207643
NM_000303.3(PMM2):c.458T>G (p.Ile153Arg) rs150577656
NM_000481.4(AMT):c.1068GAA[2] (p.Lys358del) rs768940499
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr) rs758166013
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln) rs1555446330
NM_001035.3(RYR2):c.12608C>T (p.Ala4203Val) rs794728792
NM_001042492.3(NF1):c.5651T>G (p.Phe1884Cys)
NM_001127178.3(PIGG):c.641A>G (p.His214Arg)
NM_001323289.2(CDKL5):c.470C>T (p.Ala157Val) rs863225066
NM_003361.4(UMOD):c.548A>G (p.Tyr183Cys) rs1064796542
NM_005902.4(SMAD3):c.269G>A (p.Arg90His) rs886038803
NM_006397.3(RNASEH2A):c.179T>C (p.Leu60Pro) rs373301983
NM_007055.4(POLR3A):c.1649A>G (p.Tyr550Cys) rs886047289
NM_007327.4(GRIN1):c.421G>A (p.Val141Met) rs1293947350
NM_015915.5(ATL1):c.1306A>G (p.Asn436Asp) rs2140239163
NM_015915.5(ATL1):c.458G>C (p.Ser153Thr)
NM_024665.7(TBL1XR1):c.970T>G (p.Ser324Ala) rs2108437312
NM_078470.6(COX15):c.211C>T (p.Arg71Ter)
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_144773.4(PROKR2):c.58del (p.His20fs) rs587777834
NM_153033.5(KCTD7):c.793G>A (p.Gly265Arg) rs200415747

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