ClinVar Miner

List of variants reported as uncertain significance by Center of Medical Genetics and Primary Health Care

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001184.4(ATR):c.992A>G (p.Asp331Gly) rs150008448 0.00120
NM_007294.4(BRCA1):c.-86C>T rs143160357 0.00077
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071 0.00071
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536 0.00041
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00024
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser) rs142063461 0.00022
NM_003072.5(SMARCA4):c.403C>G (p.Pro135Ala) rs150949949 0.00012
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999 0.00009
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His) rs62625284 0.00006
NM_003000.3(SDHB):c.269G>A (p.Arg90Gln) rs570278423 0.00004
NM_004655.4(AXIN2):c.2083G>T (p.Ala695Ser) rs140510381 0.00004
NM_006231.4(POLE):c.5653G>A (p.Ala1885Thr) rs748008084 0.00004
NM_000051.4(ATM):c.1421G>A (p.Ser474Asn) rs876659240 0.00003
NM_000268.4(NF2):c.1774T>C (p.Phe592Leu) rs764972504 0.00003
NM_001113378.2(FANCI):c.3812C>T (p.Ser1271Phe) rs202066338 0.00003
NM_002386.4(MC1R):c.104G>A (p.Cys35Tyr) rs779504604 0.00003
NM_000051.4(ATM):c.3371A>T (p.Tyr1124Phe) rs876660498 0.00002
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met) rs575910805 0.00002
NM_000251.3(MSH2):c.775C>T (p.Pro259Ser) rs587781294 0.00001
NM_001048174.2(MUTYH):c.469C>T (p.Arg157Trp) rs750592289 0.00001
NM_001143992.2(WRAP53):c.838G>A (p.Ala280Thr) rs968150359 0.00001
NM_004260.4(RECQL4):c.2585C>T (p.Ser862Leu) rs781636798 0.00001
NM_004260.4(RECQL4):c.2704C>T (p.Arg902Trp) rs761231404 0.00001
NM_024675.4(PALB2):c.2821A>G (p.Ile941Val) rs778602038 0.00001
NM_032444.4(SLX4):c.5413T>C (p.Cys1805Arg) rs746191123 0.00001
NM_000051.4(ATM):c.1240C>A (p.Gln414Lys) rs866521873
NM_000051.4(ATM):c.7503T>A (p.Asn2501Lys) rs1591161664
NM_000059.4(BRCA2):c.8699A>T (p.Asp2900Val) rs398122712
NM_000127.3(EXT1):c.1814G>A (p.Arg605Gln) rs755747479
NM_000143.4(FH):c.1243A>G (p.Asn415Asp) rs1659748903
NM_000249.4(MLH1):c.954C>A (p.His318Gln) rs146777069
NM_001018113.3(FANCB):c.1480A>G (p.Thr494Ala) rs1601985311
NM_001048174.2(MUTYH):c.1258C>A (p.His420Asn) rs786202133
NM_001143992.2(WRAP53):c.1564del (p.Ala522fs) rs755116516
NM_001184.4(ATR):c.1602G>C (p.Trp534Cys) rs1577697163
NM_005431.2(XRCC2):c.268C>T (p.Leu90Phe) rs587780127
NM_007294.4(BRCA1):c.5191G>A (p.Glu1731Lys) rs397507244
NM_007294.4(BRCA1):c.5360G>A (p.Cys1787Tyr) rs1597801649
NM_020975.6(RET):c.20G>A (p.Gly7Asp) rs1366681125
NM_024675.4(PALB2):c.833_834delinsAT (p.Leu278His) rs587778582
NM_032444.4(SLX4):c.2320G>T (p.Ala774Ser) rs1268731319
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp) rs137976282
NM_032444.4(SLX4):c.4423A>G (p.Thr1475Ala) rs1596519823

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.