ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center and "likely benign" from any submitter

Minimum review status of the submission from Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center: Collection method of the submission from Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 64
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) rs35829419 0.03262
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884 0.00596
NM_000313.4(PROS1):c.1528G>A (p.Val510Met) rs138925964 0.00331
NM_020458.4(TTC7A):c.2014T>C (p.Ser672Pro) rs149602485 0.00217
NM_198514.4(NHLRC2):c.1823C>T (p.Ala608Val) rs150975627 0.00217
NM_020458.4(TTC7A):c.1817A>G (p.Lys606Arg) rs139010200 0.00216
NM_198514.4(NHLRC2):c.1751T>C (p.Leu584Pro) rs144606661 0.00213
NM_003356.4(UCP3):c.427C>T (p.Arg143Ter) rs104894319 0.00194
NM_001041.4(SI):c.1111G>A (p.Val371Met) rs138434001 0.00165
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile) rs147851214 0.00145
NM_001379500.1(COL18A1):c.2849G>A (p.Arg950His) rs202106628 0.00140
NM_000213.5(ITGB4):c.3112-3C>T rs151033645 0.00138
NM_020632.3(ATP6V0A4):c.1048A>G (p.Met350Val) rs76977934 0.00126
NM_002524.5(NRAS):c.225C>T (p.Gly75=) rs142739534 0.00123
NM_016219.5(MAN1B1):c.707C>T (p.Pro236Leu) rs147577332 0.00118
NM_004333.6(BRAF):c.1433-19A>G rs369635503 0.00114
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=) rs111033366 0.00091
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_001363118.2(SLC52A2):c.1122C>T (p.Leu374=) rs144290224 0.00067
NM_005633.4(SOS1):c.749T>C (p.Val250Ala) rs139290271 0.00054
NM_003907.3(EIF2B5):c.299C>T (p.Ala100Val) rs150531914 0.00048
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112 0.00038
NM_001195263.2(PDZD7):c.1411T>C (p.Phe471Leu) rs141181035 0.00038
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr) rs190617851 0.00032
NM_002303.6(LEPR):c.1030G>A (p.Val344Ile) rs145668112 0.00026
NM_000124.4(ERCC6):c.1772C>T (p.Pro591Leu) rs115876786 0.00024
NM_005422.4(TECTA):c.2945T>C (p.Leu982Pro) rs141616288 0.00021
NM_001303.4(COX10):c.624+4A>G rs199668725 0.00017
NM_005633.4(SOS1):c.1668A>C (p.Val556=) rs376314461 0.00013
NM_152713.5(STT3A):c.615+6T>C rs767197223 0.00012
NM_201384.3(PLEC):c.11015G>C (p.Ser3672Thr) rs782767733 0.00010
NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile) rs200790812 0.00010
NM_005629.4(SLC6A8):c.1810T>A (p.Leu604Met) rs1301772452 0.00008
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797 0.00007
NM_017721.5(CC2D1A):c.498C>T (p.Tyr166=) rs373022042 0.00007
NM_004606.5(TAF1):c.3227+8G>A rs373273976 0.00005
NM_002755.4(MAP2K1):c.693+10G>A rs377034924 0.00003
NM_015559.3(SETBP1):c.62C>T (p.Pro21Leu) rs758194735 0.00003
NM_000399.5(EGR2):c.1395G>A (p.Pro465=) rs779811073 0.00002
NM_002880.4(RAF1):c.1113T>C (p.Asp371=) rs146668293 0.00002
NM_001371928.1(AHDC1):c.4031T>C (p.Ile1344Thr) rs1467982801 0.00001
NM_001374828.1(ARID1B):c.283G>A (p.Gly95Ser) rs797045273 0.00001
NM_005633.4(SOS1):c.3282T>G (p.Gly1094=) rs145357714 0.00001
NM_006922.4(SCN3A):c.1855G>A (p.Glu619Lys) rs577018955 0.00001
NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys) rs1269546947 0.00001
NM_000091.5(COL4A3):c.1311G>T (p.Pro437=) rs369557944
NM_000091.5(COL4A3):c.4028-15T>C rs764478470
NM_000540.3(RYR1):c.13565C>T (p.Pro4522Leu) rs145167688
NM_001001331.4(ATP2B2):c.1427A>G (p.Lys476Arg)
NM_001040142.2(SCN2A):c.81A>G (p.Gln27=) rs1162322343
NM_001170629.2(CHD8):c.846T>C (p.Gly282=)
NM_001386125.1(OBSCN):c.23838del (p.Ser7947fs)
NM_002693.3(POLG):c.126GCA[7] (p.Gln52_Gln55del) rs41550117
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002693.3(POLG):c.970C>A (p.Pro324Thr) rs2307437
NM_002693.3(POLG):c.970C>T (p.Pro324Ser) rs2307437
NM_002880.4(RAF1):c.1629G>C (p.Thr543=) rs5746244
NM_003754.3(EIF3F):c.591C>T (p.Pro197=)
NM_004333.6(BRAF):c.111G>A (p.Ser37=) rs727502906
NM_006015.6(ARID1A):c.3426G>T (p.Gln1142His) rs2124103896
NM_014738.6(TMEM94):c.1672C>T (p.Leu558=)
NM_017934.7(PHIP):c.187C>T (p.Leu63=) rs1774230017
NM_182931.3(KMT2E):c.5153C>T (p.Pro1718Leu) rs1799386566

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.