ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Undiagnosed Diseases Network, NIH and "likely pathogenic" from any submitter

Minimum review status of the submission from Undiagnosed Diseases Network, NIH: Collection method of the submission from Undiagnosed Diseases Network, NIH:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 61
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HGVS dbSNP gnomAD frequency
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp) rs119468010 0.00173
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NR_003051.3(RMRP):n.71A>G rs199476103 0.00156
NM_198076.6(COX20):c.157+3G>C rs367956888 0.00066
NM_001086521.2(NDUFAF8):c.195+271C>T rs745332456 0.00063
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_001395891.1(CLASP1):c.196-567G>A rs559979281 0.00038
NM_016146.6(TRAPPC4):c.454+3A>G rs375776811 0.00025
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) rs765632065 0.00007
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442 0.00004
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg) rs747268471 0.00003
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys) rs772887102 0.00003
NM_152328.5(ADSS1):c.781G>A (p.Asp261Asn) rs140614802 0.00003
NM_176787.5(PIGN):c.1251+1G>A rs1462805697 0.00003
NM_000264.5(PTCH1):c.395-1G>A rs368869806 0.00001
NM_000492.4(CFTR):c.870-2A>G rs1290078234 0.00001
NM_003119.4(SPG7):c.2271del (p.Met757fs) rs1217391623 0.00001
NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter) rs781984979 0.00001
NM_152906.7(TANGO2):c.460G>A (p.Gly154Arg) rs752298579 0.00001
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro) rs903823830
NM_000138.5(FBN1):c.871G>T (p.Glu291Ter) rs1232880706
NM_000182.5(HADHA):c.274_278del (p.Ser92fs) rs781205883
NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter) rs555145190
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_001083962.2(TCF4):c.1486+1G>T rs2048816852
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser) rs886039469
NM_001164760.2(PRKAR1B):c.1003C>T (p.Arg335Trp) rs1475000361
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) rs1554389088
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu) rs1057518083
NM_001395891.1(CLASP1):c.196-570C>T rs750325275
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_002913.5(RFC1):c.1147C>T (p.Arg383Ter)
NM_003334.4(UBA1):c.121A>G (p.Met41Val) rs1936307795
NM_003676.4(DEGS1):c.852_855del (p.Tyr283_Tyr284insTer) rs2102658561
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser) rs1567876984
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) rs397516915
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys) rs587777428
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
NM_020320.5(RARS2):c.1612del (p.Thr538fs) rs781417096
NM_020964.3(EPG5):c.5943-9_5943-5del rs773330060
NM_024589.3(ROGDI):c.506_507dup (p.Glu170fs) rs786205124
NM_025144.4(ALPK1):c.710C>T (p.Thr237Met) rs1052954321
NM_030632.3(ASXL3):c.3039+1G>A rs1555743003
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln) rs1331463984
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp) rs1060505041
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
Single allele
m.8344A>G rs118192098

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