ClinVar Miner

Variants with conflicting interpretations "pathogenic" from GeneReviews and "likely pathogenic" from any submitter

Minimum review status of the submission from GeneReviews: Collection method of the submission from GeneReviews:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 65
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HGVS dbSNP gnomAD frequency
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470 0.00211
NR_003051.3(RMRP):n.71A>G rs199476103 0.00156
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr) rs515726209 0.00067
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_000170.3(GLDC):c.1691G>T (p.Ser564Ile) rs121964974 0.00016
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778 0.00011
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209 0.00011
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp) rs201114717 0.00010
NM_001953.5(TYMP):c.665A>G (p.Lys222Arg) rs149977726 0.00010
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys) rs138444697 0.00010
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg) rs121913037 0.00007
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888 0.00006
NM_000193.4(SHH):c.676G>A (p.Ala226Thr) rs104894043 0.00006
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) rs28931569 0.00004
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln) rs376230356 0.00003
NM_207352.4(CYP4V2):c.1523G>A (p.Arg508His) rs119103284 0.00003
NM_000051.4(ATM):c.8786+1G>A rs17174393 0.00002
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro) rs137852886 0.00002
NM_000051.4(ATM):c.2T>C (p.Met1Thr) rs786203606 0.00001
NM_000158.4(GBE1):c.1883A>G (p.His628Arg) rs137852891 0.00001
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu) rs137852887 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala) rs200883871 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp) rs72551312 0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796 0.00001
NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter) rs72551316 0.00001
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg) rs72551317 0.00001
NM_001953.5(TYMP):c.1300+1G>A rs1064792878 0.00001
NM_001953.5(TYMP):c.340G>A (p.Asp114Asn) rs1064792861 0.00001
NM_001953.5(TYMP):c.854T>C (p.Leu285Pro) rs121913042 0.00001
NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe) rs281865026 0.00001
NM_054012.4(ASS1):c.970+5G>A rs372128852 0.00001
NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg) rs199476187 0.00001
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs) rs587781658
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000096.4(CP):c.848G>C (p.Trp283Ser) rs386134126
NM_000158.4(GBE1):c.1634A>G (p.His545Arg) rs137852889
NM_000158.4(GBE1):c.691+5G>C rs397515344
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met) rs118192116
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser) rs121908096
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) rs587778781
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) rs765512351
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs) rs397515356
NM_001039958.2(MESP2):c.241G>T (p.Gly81Ter) rs118204034
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter) rs121908380
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg) rs869320739
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys) rs140948465
NM_001953.5(TYMP):c.1187CGCTGG[1] (p.Ala398_Leu399del) rs786205098
NM_001953.5(TYMP):c.1301-1G>A rs773785934
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp) rs1064792872
NM_004937.3(CTNS):c.559_561+24del rs113994211
NM_005413.4(SIX3):c.770G>C (p.Arg257Pro) rs121917879
NM_018965.4(TREM2):c.40+4_40+6del rs386834142
NM_020919.4(ALS2):c.470G>A (p.Cys157Tyr) rs121908138
NM_024649.5(BBS1):c.1340-2A>G rs113994180
Single allele

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