ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Centogene AG - the Rare Disease Company and "likely pathogenic" from any submitter

Minimum review status of the submission from Centogene AG - the Rare Disease Company: Collection method of the submission from Centogene AG - the Rare Disease Company:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 112
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys) rs146013446 0.00070
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00019
NM_001177316.2(SLC34A3):c.448+1G>A rs150841256 0.00017
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022 0.00011
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928 0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp) rs397508276 0.00010
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324 0.00006
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936 0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln) rs775162839 0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_000110.4(DPYD):c.1475C>T (p.Ser492Leu) rs72549304 0.00004
NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs) rs769967565 0.00004
NM_000481.4(AMT):c.959G>A (p.Arg320His) rs121964985 0.00004
NM_000521.4(HEXB):c.1082+5G>A rs5030731 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) rs764552042 0.00003
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer) rs587784353 0.00003
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu) rs377656387 0.00003
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs) rs951347128 0.00003
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro) rs757917335 0.00002
NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp) rs766285158 0.00002
NM_000048.4(ASL):c.545G>A (p.Arg182Gln) rs751590073 0.00001
NM_000049.4(ASPA):c.162C>A (p.Asn54Lys) rs779440632 0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr) rs560952220 0.00001
NM_000137.4(FAH):c.192G>T (p.Gln64His) rs80338894 0.00001
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934 0.00001
NM_000444.6(PHEX):c.*231A>G rs946863800 0.00001
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg) rs780803192 0.00001
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu) rs559063128 0.00001
NM_000642.3(AGL):c.100C>T (p.Arg34Ter) rs781580050 0.00001
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006 0.00001
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe) rs386134222 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp) rs564185858 0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213 0.00001
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro) rs180177195
NM_000051.4(ATM):c.1065+1G>T rs201089102
NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys) rs376910645
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg) rs786204483
NM_000088.4(COL1A1):c.1812del (p.Gly605fs) rs193922143
NM_000169.3(GLA):c.982G>C (p.Gly328Arg) rs104894832
NM_000263.4(NAGLU):c.701G>C (p.Arg234Pro) rs886042073
NM_000271.5(NPC1):c.2086del (p.Ala696fs)
NM_000271.5(NPC1):c.2146C>T (p.Gln716Ter)
NM_000271.5(NPC1):c.2978dup (p.Asp994fs) rs775915490
NM_000271.5(NPC1):c.3255T>A (p.Tyr1085Ter) rs774602107
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr) rs1555631998
NM_000314.8(PTEN):c.210-1G>A rs1114167621
NM_000314.8(PTEN):c.388C>G (p.Arg130Gly) rs121909224
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp) rs267606838
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr) rs760300454
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His) rs120074117
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro) rs751269562
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln) rs121909121
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_001286704.2(UFM1):c.-273_-271del rs747359907
NM_001291415.2(KDM6A):c.3991C>T (p.Arg1331Ter) rs863224886
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys) rs1567203083
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys) rs864309721
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_002677.5(PMP2):c.155T>C (p.Ile52Thr) rs1563518388
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del) rs767004810
NM_006767.4(LZTR1):c.1373dup (p.His459fs) rs1924703709
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_007317.3(KIF22):c.443C>T (p.Pro148Leu) rs193922921
NM_013275.6(ANKRD11):c.1977C>G (p.Tyr659Ter) rs749201074
NM_014252.4(SLC25A15):c.564C>G (p.Phe188Leu) rs141028076
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del) rs387906299
NM_020320.5(RARS2):c.1A>T (p.Met1Leu) rs774923951
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup) rs387906492
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val) rs1131692048

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