ClinVar Miner

Variants with conflicting interpretations "pathogenic" from New York Genome Center and "likely pathogenic" from any submitter

Minimum review status of the submission from New York Genome Center: Collection method of the submission from New York Genome Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 58
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter) rs115746363 0.00243
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) rs57443665 0.00202
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met) rs138011813 0.00020
NM_003041.4(SLC5A2):c.885+5G>A rs200228142 0.00014
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met) rs80338853 0.00009
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs) rs386833988 0.00007
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795 0.00007
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828 0.00004
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201 0.00002
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819 0.00001
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr) rs80358252 0.00001
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe) rs121908040 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_001458.5(FLNC):c.3791-1G>C rs781135153 0.00001
NM_006767.4(LZTR1):c.2407-2A>G rs1158550690 0.00001
NM_152906.7(TANGO2):c.256C>T (p.Arg86Ter) rs1162037663 0.00001
NM_000057.4(BLM):c.772_773del (p.Leu258fs) rs367543013
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000257.4(MYH7):c.732+1G>A rs730880850
NM_000527.5(LDLR):c.1A>T (p.Met1Leu) rs879254382
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) rs45578238
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile) rs786204242
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_020975.6(RET):c.1998G>C (p.Lys666Asn) rs146646971
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
Single allele

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.