ClinVar Miner

Variants with conflicting interpretations "likely benign" from Mayo Clinic Laboratories, Mayo Clinic and "uncertain significance" from any submitter

Minimum review status of the submission from Mayo Clinic Laboratories, Mayo Clinic: Collection method of the submission from Mayo Clinic Laboratories, Mayo Clinic:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 73
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HGVS dbSNP gnomAD frequency
NM_000308.4(CTSA):c.51del (p.Leu18fs) rs564815597 0.01174
NM_004360.5(CDH1):c.-71C>G rs34033771 0.00927
NM_005609.4(PYGM):c.1092+6dup rs368602234 0.00700
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_000249.4(MLH1):c.307-29C>A rs139620056 0.00398
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_003465.3(CHIT1):c.585C>T (p.Tyr195=) rs114168492 0.00272
NM_000152.5(GAA):c.2481+16G>A rs41292408 0.00252
NM_000179.3(MSH6):c.3439-16C>T rs192614006 0.00237
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577 0.00237
NM_032273.4(TMEM126A):c.96T>G (p.Leu32=) rs36100288 0.00220
NM_020549.5(CHAT):c.1248C>T (p.Asn416=) rs116071049 0.00187
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=) rs148108322 0.00175
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_000642.3(AGL):c.1875G>T (p.Thr625=) rs141944878 0.00143
NM_000159.4(GCDH):c.1143C>T (p.Ile381=) rs142553521 0.00128
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399 0.00101
NM_003465.3(CHIT1):c.447C>T (p.Ala149=) rs139891908 0.00094
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_023036.6(DNAI2):c.1715C>T (p.Pro572Leu) rs151241589 0.00081
NM_005670.4(EPM2A):c.24G>A (p.Val8=) rs587780938 0.00077
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) rs139517699 0.00070
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_001008215.3(COA5):c.*3C>G rs372867268 0.00065
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_020320.5(RARS2):c.78A>C (p.Thr26=) rs138360045 0.00046
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_000249.4(MLH1):c.198C>T (p.Thr66=) rs61751642 0.00040
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_001953.5(TYMP):c.1443G>A (p.Gln481=) rs377497287 0.00030
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311 0.00021
NM_000152.5(GAA):c.1888+10_1888+11insC rs748036956 0.00020
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00019
NM_000202.8(IDS):c.104A>G (p.Asp35Gly) rs144081417 0.00019
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075 0.00016
NM_015340.4(LARS2):c.1383T>C (p.Ile461=) rs35347543 0.00014
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460 0.00010
NM_002693.3(POLG):c.2724C>T (p.Ala908=) rs377390914 0.00010
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser) rs80358572 0.00009
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly) rs41295282 0.00007
NM_002693.3(POLG):c.125G>A (p.Arg42Gln) rs74382477 0.00005
NM_000059.4(BRCA2):c.6739A>G (p.Ser2247Gly) rs80358896 0.00004
NM_001042432.2(CLN3):c.*29A>G rs778438984 0.00004
NM_004655.4(AXIN2):c.135C>T (p.Val45=) rs376726966 0.00002
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg) rs80357322 0.00002
NM_014363.6(SACS):c.6240T>C (p.Val2080=) rs550680855 0.00002
NM_000038.6(APC):c.5430T>G (p.Asp1810Glu) rs149828124 0.00001
NM_000038.6(APC):c.5952T>C (p.Asn1984=) rs142019870 0.00001
NM_000059.4(BRCA2):c.7448G>A (p.Ser2483Asn) rs80358967 0.00001
NM_000414.4(HSD17B4):c.1210-11C>G rs779466683 0.00001
NM_024312.5(GNPTAB):c.1422G>A (p.Gly474=) rs775742250 0.00001
NM_000038.6(APC):c.423-4del rs730881230
NM_000038.6(APC):c.777G>T (p.Arg259=) rs147704593
NM_000179.3(MSH6):c.3557-4del rs267608102
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000314.8(PTEN):c.-838C>T rs786201900
NM_001040436.3(YARS2):c.930G>A (p.Pro310=) rs147551647
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_003850.3(SUCLA2):c.-3_-2del rs570547911
NM_012062.5(DNM1L):c.*21_*22delinsCT rs34421401
NM_014236.4(GNPAT):c.569-11del rs199905093

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