ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill and "pathogenic" from any submitter

Minimum review status of the submission from UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill: Collection method of the submission from UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 55
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HGVS dbSNP gnomAD frequency
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570 0.00137
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_001930.4(DHPS):c.1014+1G>A rs142633494 0.00028
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849 0.00024
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920 0.00016
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00016
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367 0.00014
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00009
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_019616.4(F7):c.1085C>T (p.Thr362Met) rs531225271 0.00008
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861 0.00006
NM_012144.4(DNAI1):c.1212T>G (p.Tyr404Ter) rs926347298 0.00004
NM_000128.4(F11):c.1489C>T (p.Arg497Ter) rs375422404 0.00003
NM_001010892.3(RSPH4A):c.1490dup (p.Ser498fs) rs762267064 0.00003
NM_018076.5(ODAD2):c.2219G>A (p.Trp740Ter) rs201213030 0.00003
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) rs121918185 0.00002
NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter) rs745918507 0.00002
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg) rs200672668 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys) rs72558495 0.00001
NM_001038603.3(MARVELD2):c.1183-1G>A rs200781822 0.00001
NM_001369.3(DNAH5):c.10441C>T (p.Arg3481Ter) rs886039500 0.00001
NM_001369.3(DNAH5):c.12107G>A (p.Trp4036Ter) rs760104757 0.00001
NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter) rs758112779 0.00001
NM_001369.3(DNAH5):c.6308C>A (p.Ser2103Ter) rs769260126 0.00001
NM_020166.5(MCCC1):c.1483C>T (p.Gln495Ter) rs1713700813 0.00001
NM_024422.6(DSC2):c.631-2A>G rs397514042 0.00001
NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser) rs72656394
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195
NM_000553.6(WRN):c.561A>G (p.Lys187=) rs775802030
NM_001001548.3(CD36):c.787_808del (p.Val263fs) rs754365623
NM_001010892.3(RSPH4A):c.1690del (p.Gln564fs) rs1775758975
NM_001190787.3(MCIDAS):c.1004T>A (p.Leu335Ter) rs1291689114
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) rs397516633
NM_001256317.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_001277115.2(DNAH11):c.4095+2C>A rs532007878
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.3(DNAH5):c.5665_5666del (p.Leu1889fs) rs767779749
NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs) rs782289759
NM_003401.5(XRCC4):c.25del (p.His9fs) rs869320677
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_017950.4(CCDC40):c.2660dup (p.Asn887fs) rs1567811487
NM_017950.4(CCDC40):c.3157del (p.Arg1053fs) rs1567818236
NM_018238.4(AGK):c.523_524del (p.Ile175fs) rs1228071168
NM_022464.5(SIL1):c.645+2T>C
NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter) rs2034938852
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) rs111033367

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