ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Center for Human Genetics, Inc, Center for Human Genetics, Inc and "likely benign" from any submitter

Minimum review status of the submission from Center for Human Genetics, Inc, Center for Human Genetics, Inc: Collection method of the submission from Center for Human Genetics, Inc, Center for Human Genetics, Inc:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 55
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_000249.4(MLH1):c.1039-8T>A rs193922367 0.01153
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002 0.00737
NM_000251.3(MSH2):c.1662-9G>A rs17218356 0.00398
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_003482.4(KMT2D):c.8774C>T (p.Ala2925Val) rs199547661 0.00223
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu) rs71640285 0.00137
NM_003482.4(KMT2D):c.6733C>G (p.Leu2245Val) rs201931833 0.00124
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=) rs148688181 0.00100
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_003482.4(KMT2D):c.15797G>A (p.Arg5266His) rs201481646 0.00053
NM_003482.4(KMT2D):c.7301C>A (p.Ala2434Asp) rs201114196 0.00051
NM_003242.6(TGFBR2):c.649G>C (p.Ala217Pro) rs149141477 0.00046
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365 0.00034
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990 0.00030
NM_000138.5(FBN1):c.6314-15G>A rs200841830 0.00023
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg) rs63750702 0.00022
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val) rs201962592 0.00021
NM_003482.4(KMT2D):c.8579G>A (p.Arg2860His) rs377747403 0.00016
NM_000251.3(MSH2):c.505A>G (p.Ile169Val) rs63750716 0.00013
NM_003482.4(KMT2D):c.7366C>T (p.Arg2456Cys) rs754060706 0.00009
NM_022455.5(NSD1):c.4187C>T (p.Thr1396Met) rs747298351 0.00009
NM_000251.3(MSH2):c.2500G>A (p.Ala834Thr) rs63750757 0.00008
NM_022455.5(NSD1):c.6259-8A>T rs370529039 0.00008
NM_003482.4(KMT2D):c.5645-3C>T rs544332856 0.00007
NM_003482.4(KMT2D):c.13531-10T>C rs769029919 0.00006
NM_017668.3(NDE1):c.948-3126G>A rs377410503 0.00006
NM_003482.4(KMT2D):c.15499A>G (p.Ser5167Gly) rs752976776 0.00004
NM_000548.5(TSC2):c.4346C>T (p.Ser1449Phe) rs759004251 0.00003
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser) rs779727341 0.00003
NM_003482.4(KMT2D):c.8137G>A (p.Ala2713Thr) rs748969707 0.00003
NM_022455.5(NSD1):c.7531G>C (p.Asp2511His) rs575229932 0.00003
NM_001042492.3(NF1):c.2294G>A (p.Arg765His) rs199474777 0.00002
NM_001042492.3(NF1):c.7326A>G (p.Leu2442=) rs753224880 0.00001
NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala) rs779202876 0.00001
NM_003482.4(KMT2D):c.10467G>T (p.Gln3489His) rs535351117 0.00001
NM_003482.4(KMT2D):c.11599C>A (p.Gln3867Lys) rs1200655258 0.00001
NM_003482.4(KMT2D):c.3982C>T (p.Arg1328Trp) rs754797404 0.00001
NM_003482.4(KMT2D):c.941C>G (p.Ser314Cys) rs1043654062 0.00001
NM_004612.4(TGFBR1):c.97+14C>T rs1198082830 0.00001
NM_000090.4(COL3A1):c.3201+10C>G rs372405344
NM_000249.4(MLH1):c.885-21TC[2] rs267607804
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del) rs587781278
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu) rs35766612
NM_003482.4(KMT2D):c.11568GCA[6] (p.Gln3863dup) rs748986705
NM_003482.4(KMT2D):c.13671+10dup rs147210845
NM_003482.4(KMT2D):c.176+15G>A rs1415205254
NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.