ClinVar Miner

List of variants reported as likely pathogenic by Department of Pathology and Laboratory Medicine,Sinai Health System

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 70
Download table as spreadsheet
HGVS dbSNP
NC_000002.11:g.(?_48010373)_(48010632_?)dup
NC_000007.13:g.(?_6013030)_(6017388_?)del
NM_000038.5(APC):c.288T>A (p.Tyr96Ter) rs376213437
NM_000038.5(APC):c.835-7T>G rs1554079128
NM_000059.3(BRCA2):c.1368_1369dupGA (p.Lys457Argfs) rs397507583
NM_000059.3(BRCA2):c.2398_2423dup (p.Leu809Valfs) rs1555282658
NM_000059.3(BRCA2):c.2593G>T (p.Glu865Ter) rs587782014
NM_000059.3(BRCA2):c.2748delT (p.Cys916Trpfs) rs886040443
NM_000059.3(BRCA2):c.2786delT (p.Leu929Tyrfs) rs80359347
NM_000059.3(BRCA2):c.2870delA (p.Asn957Ilefs) rs397507645
NM_000059.3(BRCA2):c.3328G>T (p.Glu1110Ter) rs1555283173
NM_000059.3(BRCA2):c.469_470delAA (p.Lys157Valfs) rs397507739
NM_000059.3(BRCA2):c.517G>C (p.Gly173Arg) rs397507768
NM_000059.3(BRCA2):c.5862_5863delTT (p.Ser1955Argfs) rs786202700
NM_000059.3(BRCA2):c.68_316del249 (p.Asp23_Leu105del) rs1555280328
NM_000059.3(BRCA2):c.7826G>A (p.Gly2609Asp) rs80359009
NM_000059.3(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071
NM_000059.3(BRCA2):c.8470A>T (p.Arg2824Ter) rs886040778
NM_000059.3(BRCA2):c.8487+3A>G rs81002806
NM_000059.3(BRCA2):c.8924delT (p.Val2975Glufs) rs397508020
NM_000059.3(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000179.2(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.2(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.2(MSH6):c.3416G>T (p.Gly1139Val) rs1316409501
NM_000179.2(MSH6):c.3701_3706dup (p.Leu1235_Ala1236insGluLeu) rs63750523
NM_000249.3(MLH1):c.-42C>T rs41285097
NM_000249.3(MLH1):c.116+3A>G rs1553637475
NM_000249.3(MLH1):c.1664T>G (p.Leu555Arg) rs587778937
NM_000249.3(MLH1):c.1918C>T (p.Pro640Ser) rs63749792
NM_000249.3(MLH1):c.1919C>T (p.Pro640Leu) rs267607875
NM_000249.3(MLH1):c.1989G>T (p.Glu663Asp) rs63751662
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.3(MLH1):c.2048_2050delTCT (p.Phe683del) rs1553664506
NM_000249.3(MLH1):c.208-3C>T rs267607720
NM_000249.3(MLH1):c.250A>G (p.Lys84Glu) rs63750641
NM_000249.3(MLH1):c.332C>T (p.Ala111Val) rs63750539
NM_000249.3(MLH1):c.546-?_1731+?dup
NM_000251.2(MSH2):c.1067T>G (p.Ile356Arg) rs753075410
NM_000251.2(MSH2):c.211G>C (p.Gly71Arg) rs587782659
NM_000251.2(MSH2):c.2182_2199del (p.Glu728_Ala733del) rs1553369194
NM_000251.2(MSH2):c.518T>C (p.Leu173Pro) rs63750070
NM_000251.2(MSH2):c.571_573delCTC (p.Leu191del) rs587779165
NM_000535.6(PMS2):c.134A>C (p.Asn45Thr) rs1554306353
NM_000535.6(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000535.6(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.6(PMS2):c.23+21_23+28delTCCGGTGT rs1554308880
NM_001009944.2(PKD1):c.12391_12393delGAG (p.Glu4131del) rs1555444468
NM_001009944.2(PKD1):c.12712C>T (p.Gln4238Ter) rs1045675831
NM_001009944.2(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.2(PKD1):c.6832G>A (p.Gly2278Arg) rs1555454145
NM_001009944.2(PKD1):c.8017-?_8161+?dup
NM_001128425.1(MUTYH):c.713A>G (p.Asn238Ser) rs1057517765
NM_001128425.1(MUTYH):c.733C>T (p.Arg245Cys) rs200495564
NM_001128425.1(MUTYH):c.734G>A (p.Arg245His) rs140342925
NM_007294.3(BRCA1):c.1994delA (p.Asn665Thrfs) rs1555590714
NM_007294.3(BRCA1):c.2389G>T (p.Glu797Ter) rs62625306
NM_007294.3(BRCA1):c.3334delG (p.Glu1112Asnfs) rs1555587944
NM_007294.3(BRCA1):c.4516delG (p.Asp1506Ilefs) rs273900736
NM_007294.3(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.3(BRCA1):c.4986+3G>C rs80358023
NM_007294.3(BRCA1):c.4987-2A>G rs397509212
NM_007294.3(BRCA1):c.5116G>A (p.Gly1706Arg) rs886040864
NM_007294.3(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.3(BRCA1):c.5309G>T (p.Gly1770Val) rs863224765
NM_007294.3(BRCA1):c.5427dup (p.Val1810Cysfs) rs1555574739
NM_007294.3(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.3(BRCA1):c.5509T>G (p.Trp1837Gly) rs80356959
NM_007294.3(BRCA1):c.5521A>C (p.Ser1841Arg) rs80357299
NM_138694.3(PKHD1):c.1159_1161delAAT (p.Asn387del) rs1554218506
NM_138694.3(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145

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.