ClinVar Miner

Variants with conflicting interpretations "likely benign" from Institute of Human Genetics, University of Leipzig Medical Center and "benign" from any submitter

Minimum review status of the submission from Institute of Human Genetics, University of Leipzig Medical Center: Collection method of the submission from Institute of Human Genetics, University of Leipzig Medical Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 39
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_001040108.2(MLH3):c.1870G>C (p.Glu624Gln) rs28756986 0.00772
NM_004035.7(ACOX1):c.80C>T (p.Pro27Leu) rs145082938 0.00672
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile) rs138127778 0.00637
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_058216.3(RAD51C):c.572-17G>T rs193023469 0.00513
NM_017636.4(TRPM4):c.755G>A (p.Arg252His) rs146564314 0.00453
NM_001371986.1(UNC80):c.92+7G>A rs200211384 0.00448
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00419
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895 0.00411
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740 0.00307
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_000548.5(TSC2):c.4006-8C>T rs45517325 0.00275
NM_001394062.1(MACF1):c.1799G>A (p.Arg600Gln) rs139794027 0.00250
NM_000096.4(CP):c.1430C>T (p.Pro477Leu) rs35331711 0.00242
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys) rs181347577 0.00218
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_000540.3(RYR1):c.12283-7C>T rs143861818 0.00206
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) rs121908919 0.00180
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517 0.00116
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu) rs146170087 0.00094
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00068
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100 0.00054
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser) rs12877501 0.00043
NM_002907.4(RECQL):c.401C>T (p.Thr134Ile) rs150306543 0.00037
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) rs121907984 0.00012
NM_001080467.3(MYO5B):c.2228G>A (p.Arg743His) rs368212890 0.00011
NM_003482.4(KMT2D):c.859A>G (p.Lys287Glu) rs375915416 0.00007
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn) rs80357175 0.00004
NM_004360.5(CDH1):c.188G>A (p.Arg63Gln) rs587780117 0.00002
NM_000069.3(CACNA1S):c.1629G>T (p.Thr543=) rs143999390
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del) rs28997575
NM_001099922.3(ALG13):c.2754ACC[17] (p.Pro944_Pro945dup) rs750710267
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup) rs572772837

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