ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota and "pathogenic" from any submitter

Minimum review status of the submission from Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota: Collection method of the submission from Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 62
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HGVS dbSNP gnomAD frequency
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959 0.00133
NM_007113.4(TCHH):c.991C>T (p.Gln331Ter) rs201930497 0.00039
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter) rs144948296 0.00018
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly) rs201375579 0.00017
NM_000275.3(OCA2):c.1503+5G>A rs368124046 0.00008
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=) rs767539005 0.00006
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_000135.4(FANCA):c.3349-1G>A rs769862233 0.00004
NM_006017.3(PROM1):c.1301+2T>C rs775957498 0.00004
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln) rs767271619 0.00003
NM_000153.4(GALC):c.868C>T (p.Arg290Cys) rs780750448 0.00003
NM_000277.3(PAH):c.250G>T (p.Asp84Tyr) rs62514902 0.00003
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met) rs1569541120 0.00002
NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr) rs764100025 0.00002
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe) rs758571672 0.00002
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln) rs781862879 0.00001
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447 0.00001
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934 0.00001
NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys) rs121912482 0.00001
NM_000504.4(F10):c.1073C>T (p.Thr358Met) rs768222784 0.00001
NM_001008216.2(GALE):c.449C>T (p.Thr150Met) rs765353795 0.00001
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp) rs121917787 0.00001
NM_003119.4(SPG7):c.861+1G>C rs1412575396 0.00001
NM_004249.4(RAB28):c.651T>G (p.Cys217Trp) rs751163782 0.00001
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser) rs137852760 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_054012.4(ASS1):c.174+1G>T rs748264993 0.00001
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508 0.00001
NM_152443.3(RDH12):c.506G>A (p.Arg169Gln) rs971610277 0.00001
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys) rs1569540695
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) rs1569540704
NM_000044.6(AR):c.2170C>T (p.Pro724Ser) rs2147525357
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala) rs1566462533
NM_000074.3(CD40LG):c.107T>G (p.Met36Arg) rs104894774
NM_000094.4(COL7A1):c.6017G>A (p.Gly2006Asp) rs121912842
NM_000133.4(F9):c.*1157A>G rs1317977313
NM_000135.4(FANCA):c.2014+1G>C rs1598116164
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del) rs1567618907
NM_000271.5(NPC1):c.3100G>A (p.Gly1034Arg) rs2058637844
NM_000277.3(PAH):c.529G>C (p.Val177Leu) rs199475602
NM_000278.5(PAX2):c.221_226dup (p.Glu74_Thr75dup) rs387906530
NM_000397.4(CYBB):c.1237dup (p.Val413fs) rs1569480031
NM_000426.4(LAMA2):c.2749+1G>A rs759555791
NM_000488.4(SERPINC1):c.490C>T (p.Arg164Ter)
NM_000496.3(CRYBB2):c.355G>A (p.Gly119Arg) rs864309698
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys) rs1301146300
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met) rs118192116
NM_001042492.3(NF1):c.4316T>A (p.Leu1439Ter) rs1567862071
NM_001111125.3(IQSEC2):c.3875del (p.Pro1292fs) rs1569291627
NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys) rs387906653
NM_001288705.3(CSF1R):c.2381T>C (p.Ile794Thr) rs281860274
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr) rs397514357
NM_001399.5(EDA):c.612_629del (p.202_204IPG[1]) rs1064793104
NM_005422.4(TECTA):c.3169T>A (p.Cys1057Ser) rs121909059
NM_005609.4(PYGM):c.403G>A (p.Gly135Arg) rs780246932
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter) rs1855655612
NM_020366.4(RPGRIP1):c.673del (p.His225fs) rs752263228
NM_033409.4(SLC52A3):c.753del (p.Val252fs) rs1568721373
NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn) rs121908072
NM_152564.5(VPS13B):c.11832dup (p.Ser3945fs) rs180177374
NM_153006.3(NAGS):c.1268+2T>C rs202041339

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