ClinVar Miner

Variants with conflicting interpretations "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: 41
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HGVS dbSNP gnomAD frequency
NM_004360.5(CDH1):c.48+6C>T rs3743674 0.80384
NM_000179.3(MSH6):c.3802-40C>G rs3136367 0.73398
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300 0.71989
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690 0.71839
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393 0.65667
NM_000152.5(GAA):c.547-4C>G rs3816256 0.65665
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65662
NM_000152.5(GAA):c.955+12G>A rs2252455 0.65487
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304 0.65453
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397 0.57872
NM_000249.4(MLH1):c.1668-19A>G rs9876116 0.41821
NM_004329.3(BMPR1A):c.4C>A (p.Pro2Thr) rs11528010 0.40719
NM_000455.5(STK11):c.920+7G>C rs2075607 0.16357
NM_000179.3(MSH6):c.260+22C>G rs55927047 0.13136
NM_004360.5(CDH1):c.1937-13T>C rs2276330 0.09635
NM_020247.5(COQ8A):c.63G>A (p.Ala21=) rs11549709 0.01280
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=) rs11571642 0.00768
NM_005138.3(SCO2):c.763C>A (p.Arg255=) rs112793292 0.00755
NM_003465.3(CHIT1):c.1350C>T (p.Cys450=) rs73066396 0.00675
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_000249.4(MLH1):c.589-15C>T rs55658850 0.00582
NM_002693.3(POLG):c.3198G>A (p.Thr1066=) rs61752780 0.00460
NM_003465.3(CHIT1):c.1161T>C (p.Leu387=) rs73066400 0.00427
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00404
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826 0.00353
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile) rs151166497 0.00319
NM_016292.3(TRAP1):c.2053G>A (p.Asp685Asn) rs61756352 0.00195
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00082
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624 0.00020
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_000033.4(ABCD1):c.1744G>A (p.Val582Ile) rs76180859 0.00001
NM_000179.3(MSH6):c.3646+35_3646+38del rs1805181
NM_000249.4(MLH1):c.*32CTT[1] rs193922366
NM_000391.4(TPP1):c.887-6del rs35039601
NM_001083614.2(EARS2):c.263_264delinsAA (p.Ala88Glu) rs1555504721

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