ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from CeGaT Center for Human Genetics Tuebingen and "pathogenic" from any submitter

Minimum review status of the submission from CeGaT Center for Human Genetics Tuebingen: Collection method of the submission from CeGaT Center for Human Genetics Tuebingen:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 180
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HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_025152.3(NUBPL):c.815-27T>C rs118161496 0.00348
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu) rs144478519 0.00264
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys) rs147559466 0.00210
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00153
NM_000506.3(F2):c.598G>A (p.Glu200Lys) rs62623459 0.00138
NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter) rs200846354 0.00124
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00091
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile) rs61750563 0.00088
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00074
NM_017721.5(CC2D1A):c.2657G>A (p.Arg886His) rs201921029 0.00072
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr) rs120074114 0.00071
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549 0.00066
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter) rs151093663 0.00065
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val) rs146457619 0.00039
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr) rs202201763 0.00039
NM_001609.4(ACADSB):c.303+1G>A rs147936696 0.00037
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn) rs72553877 0.00034
NM_000327.4(ROM1):c.339dup (p.Leu114fs) rs71458427 0.00033
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser) rs61748532 0.00033
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) rs183487020 0.00031
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452 0.00030
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693 0.00026
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_024306.5(FA2H):c.232G>A (p.Glu78Lys) rs527421775 0.00024
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_144666.3(DNHD1):c.2683C>T (p.Gln895Ter) rs929548279 0.00024
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00021
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_001204.7(BMPR2):c.545G>A (p.Gly182Asp) rs137852754 0.00016
NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile) rs267607134 0.00014
NM_000153.4(GALC):c.266C>T (p.Pro89Leu) rs201422931 0.00014
NM_030973.4(MED25):c.1966C>A (p.Pro656Thr) rs199761611 0.00014
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala) rs121909298 0.00012
NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg) rs143027621 0.00012
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_002335.4(LRP5):c.3245A>G (p.Tyr1082Cys) rs113804402 0.00011
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_004646.4(NPHS1):c.2335-1G>A rs150038620 0.00009
NM_013291.3(CPSF1):c.2823_2824del (p.Val943fs) rs782640869 0.00009
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087 0.00009
NM_000501.4(ELN):c.1150+1G>A rs727503030 0.00006
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp) rs587784379 0.00006
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala) rs772888249 0.00006
NM_006005.3(WFS1):c.977C>T (p.Ala326Val) rs369795224 0.00006
NM_006059.4(LAMC3):c.3871C>T (p.Arg1291Ter) rs201793200 0.00006
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853 0.00006
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555 0.00005
NM_000485.3(APRT):c.400+2dup rs745594160 0.00005
NM_005619.5(RTN2):c.939del (p.Thr314fs) rs768449676 0.00005
NM_032756.4(HPDL):c.469T>C (p.Trp157Arg) rs567130416 0.00005
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg) rs199473260 0.00004
NM_001367624.2(ZNF469):c.10324del (p.Arg3442fs) rs756543273 0.00004
NM_002693.3(POLG):c.428C>T (p.Ala143Val) rs796052899 0.00004
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn) rs769602042 0.00004
NM_006767.4(LZTR1):c.1394C>T (p.Ala465Val) rs753757778 0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His) rs199473011 0.00003
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val) rs61748521 0.00003
NM_006059.4(LAMC3):c.976+1G>C rs201519274 0.00003
NM_017654.4(SAMD9):c.3381C>A (p.Tyr1127Ter) rs572380130 0.00003
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp) rs554073390 0.00002
NM_000747.3(CHRNB1):c.248G>A (p.Trp83Ter) rs766823872 0.00002
NM_002230.4(JUP):c.902A>G (p.Glu301Gly) rs782058451 0.00002
NM_020461.4(TUBGCP6):c.5112del (p.Asp1705fs) rs764772232 0.00002
NM_020944.3(GBA2):c.515G>A (p.Arg172His) rs200268523 0.00002
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) rs121912493 0.00002
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030 0.00001
NM_000283.4(PDE6B):c.409G>A (p.Gly137Arg) rs781658083 0.00001
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp) rs771038310 0.00001
NM_000531.6(OTC):c.374C>T (p.Thr125Met) rs72554356 0.00001
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337 0.00001
NM_000540.3(RYR1):c.8026C>T (p.Arg2676Trp) rs193922826 0.00001
NM_001182.5(ALDH7A1):c.575C>T (p.Thr192Met) rs376917645 0.00001
NM_001184.4(ATR):c.7273C>T (p.Arg2425Ter) rs1310011888 0.00001
NM_001297.5(CNGB1):c.2603G>A (p.Gly868Asp) rs770961534 0.00001
NM_001358263.1(HK1):c.75+20308C>T rs756166032 0.00001
NM_001365536.1(SCN9A):c.377+5C>T rs200972952 0.00001
NM_001374623.1(PNPLA1):c.704C>T (p.Pro235Leu) rs376245108 0.00001
NM_001939.3(DRP2):c.43C>T (p.Arg15Ter) rs756695526 0.00001
NM_004004.6(GJB2):c.32_45del (p.Gly11fs) rs1290698257 0.00001
NM_004076.5(CRYBB3):c.466G>A (p.Gly156Arg) rs1203386884 0.00001
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn) rs267606676 0.00001
NM_005245.4(FAT1):c.12808C>T (p.Arg4270Ter) rs373689624 0.00001
NM_005276.4(GPD1):c.895G>A (p.Gly299Arg) rs889092603 0.00001
NM_006017.3(PROM1):c.1209_1229del (p.Gln403_Ser410delinsHis) rs777497868 0.00001
NM_006031.6(PCNT):c.6162_6163del (p.Lys2054fs) rs778391726 0.00001
NM_006516.4(SLC2A1):c.278G>A (p.Arg93Gln) rs80359815 0.00001
NM_007294.4(BRCA1):c.4096+1G>A rs80358178 0.00001
NM_015214.3(DDHD2):c.568C>T (p.Arg190Ter) rs377293194 0.00001
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu) rs142500730 0.00001
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767 0.00001
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000094.4(COL7A1):c.3942dup (p.Asn1315fs) rs747912732
NM_000151.4(G6PC1):c.965T>A (p.Phe322Tyr) rs863224022
NM_000153.4(GALC):c.1158_1161+6del rs759068540
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His) rs730880624
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) rs868979094
NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn) rs150639487
NM_000350.3(ABCA4):c.746A>G (p.Asp249Gly) rs62646865
NM_000350.3(ABCA4):c.769-784C>T
NM_000435.3(NOTCH3):c.3298C>T (p.Arg1100Cys)
NM_000492.4(CFTR):c.2758G>T (p.Val920Leu) rs373885282
NM_000498.3(CYP11B2):c.542G>A (p.Arg181Gln)
NM_000551.4(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000742.4(CHRNA2):c.1126C>T (p.Arg376Trp) rs1018084204
NM_000814.6(GABRB3):c.380A>G (p.Lys127Arg) rs1057519201
NM_001005273.3(CHD3):c.2897G>A (p.Arg966Gln) rs1555611692
NM_001040142.2(SCN2A):c.2642T>C (p.Leu881Pro) rs796053116
NM_001040142.2(SCN2A):c.2990A>G (p.Asp997Gly) rs1057523786
NM_001100913.3(PACS2):c.631G>A (p.Glu211Lys) rs1595718024
NM_001104631.2(PDE4D):c.1762A>G (p.Met588Val) rs1554033934
NM_001110556.2(FLNA):c.1923C>T (p.Gly641=) rs80338841
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn) rs1064795531
NM_001127222.2(CACNA1A):c.526G>A (p.Val176Met) rs1057521920
NM_001130438.3(SPTAN1):c.55C>T (p.Arg19Trp) rs748232676
NM_001163435.3(TBCK):c.2512C>T (p.Gln838Ter) rs1740799305
NM_001166114.2(PNPLA6):c.3517C>T (p.Arg1173Trp) rs766389806
NM_001195553.2(DCX):c.667G>A (p.Gly223Arg) rs587783577
NM_001205293.3(CACNA1E):c.5267+5G>A rs2102796431
NM_001320.7(CSNK2B):c.257G>A (p.Arg86His)
NM_001323289.2(CDKL5):c.2821del (p.Tyr941fs) rs1602300837
NM_001330260.2(SCN8A):c.4441A>G (p.Met1481Val) rs886041670
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys) rs879253979
NM_001830.4(CLCN4):c.1389+5G>A rs879255590
NM_001939.3(DRP2):c.973C>T (p.Gln325Ter) rs1556419606
NM_002063.4(GLRA2):c.887C>T (p.Thr296Met) rs1601761445
NM_002074.5(GNB1):c.346G>A (p.Gly116Ser) rs1231842600
NM_002107.7(H3-3A):c.365C>T (p.Pro122Leu) rs1576203003
NM_002834.5(PTPN11):c.10C>G (p.Arg4Gly) rs886041517
NM_002834.5(PTPN11):c.661A>G (p.Ile221Val) rs397516806
NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg) rs1064795099
NM_003560.4(PLA2G6):c.2098C>T (p.Gln700Ter) rs587784346
NM_004311.4(ARL3):c.446G>A (p.Arg149His) rs770782663
NM_004700.4(KCNQ4):c.1012C>T (p.Arg338Trp) rs2148320413
NM_004859.4(CLTC):c.2325_2327del (p.Ile776del) rs1598233581
NM_005027.4(PIK3R2):c.1694C>G (p.Pro565Arg) rs1131691683
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val) rs587784489
NM_006218.4(PIK3CA):c.325GAA[1] (p.Glu110del) rs1724343994
NM_006306.4(SMC1A):c.793_795del (p.Glu265del) rs1602413408
NM_006796.3(AFG3L2):c.1064C>T (p.Thr355Met) rs1057522195
NM_006940.6(SOX5):c.1678A>G (p.Met560Val) rs1591908609
NM_013275.6(ANKRD11):c.7607G>A (p.Arg2536Gln) rs2033511172
NM_013275.6(ANKRD11):c.7753C>T (p.Arg2585Cys) rs1567537304
NM_014516.4(CNOT3):c.732del (p.Ser245fs) rs753475896
NM_018052.5(VAC14):c.1744G>A (p.Ala582Thr) rs749094914
NM_018263.6(ASXL2):c.1879dup (p.Ser627fs) rs1574391468
NM_021008.4(DEAF1):c.641T>C (p.Leu214Pro) rs1590017658
NM_021008.4(DEAF1):c.646A>G (p.Lys216Glu) rs1590017652
NM_021008.4(DEAF1):c.658G>A (p.Gly220Ser) rs751569402
NM_021930.6(RINT1):c.310C>T (p.Arg104Ter) rs777242801
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met) rs1554162016
NM_024740.2(ALG9):c.1173+2T>A rs786205134
NM_024996.7(GFM1):c.829dup (p.Ser277fs) rs771865940
NM_130837.3(OPA1):c.1681+3A>G rs1553878573
NM_144666.3(DNHD1):c.12240del (p.Lys4080fs) rs751352585
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_144991.3(TSPEAR):c.1870G>T (p.Glu624Ter) rs587717339
NM_145239.3(PRRT2):c.323_324del (p.Thr108fs) rs886041327
NM_172107.4(KCNQ2):c.553G>A (p.Ala185Thr) rs1600786349
NM_205850.3(SLC24A5):c.546T>A (p.Ser182Arg) rs1057517995
NM_206933.4(USH2A):c.1039G>C (p.Asp347His) rs772317024
NM_206933.4(USH2A):c.1531G>A (p.Glu511Lys) rs767209934
NM_206933.4(USH2A):c.2953T>C (p.Cys985Arg) rs1171264735
NM_206933.4(USH2A):c.3713C>G (p.Thr1238Arg) rs768461447
NM_206965.2(FTCD):c.1366dup (p.Glu456fs) rs777099958

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