ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center and "likely benign" from any submitter

Minimum review status of the submission from Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center: Collection method of the submission from Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 42
Download table as spreadsheet
HGVS dbSNP
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850
NM_000059.3(BRCA2):c.9275A>G (p.Tyr3092Cys) rs80359195
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln) rs11571640
NM_000088.3(COL1A1):c.3766G>A (p.Ala1256Thr) rs148216434
NM_000133.3(F9):c.769G>A (p.Val257Ile) rs200608775
NM_000138.4(FBN1):c.7241G>A (p.Arg2414Gln) rs143863014
NM_000170.2(GLDC):c.1229G>A (p.Arg410Lys) rs144090917
NM_000226.4(KRT9):c.1216T>C (p.Cys406Arg) rs77688767
NM_000251.2(MSH2):c.1886A>G (p.Gln629Arg) rs61756468
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) rs147859619
NM_000457.4(HNF4A):c.505G>A (p.Val169Ile) rs142204928
NM_000503.6(EYA1):c.671G>T (p.Gly224Val) rs201509408
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767
NM_001122659.3(EDNRB):c.-26G>A rs2070591
NM_002386.3(MC1R):c.359T>C (p.Ile120Thr) rs33932559
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866
NM_004646.3(NPHS1):c.1339G>A (p.Glu447Lys) rs28939695
NM_004646.3(NPHS1):c.2869G>C (p.Val957Leu) rs114849139
NM_004646.3(NPHS1):c.65C>T (p.Ala22Val) rs116617171
NM_006005.3(WFS1):c.1235T>C (p.Val412Ala) rs144951440
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr) rs142433421
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211
NM_016327.3(UPB1):c.977G>A (p.Arg326Gln) rs118163237
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) rs200512504
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) rs78972735
NM_052872.4(IL17F):c.254+1G>T rs117796773
NM_139025.4(ADAMTS13):c.2167C>A (p.Gln723Lys) rs138014548
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser) rs138307707
NM_153638.3(PANK2):c.1133A>G (p.Asp378Gly) rs562740927
NM_178857.6(RP1L1):c.324_325insT (p.Pro109fs) rs138816053
NM_199242.2(UNC13D):c.1228A>C (p.Ile410Leu) rs117221419
NM_199242.2(UNC13D):c.2588G>A (p.Gly863Asp) rs140184929
NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln) rs114052315
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) rs11570255

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.