ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center and "uncertain significance" 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: 43
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe) rs72653756 0.00214
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_020320.5(RARS2):c.773G>A (p.Arg258His) rs145297855 0.00044
NM_003235.5(TG):c.4378G>A (p.Val1460Ile) rs199615848 0.00019
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 0.00011
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_001983.4(ERCC1):c.466C>T (p.Arg156Trp) rs757369063 0.00007
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) rs559088058 0.00006
NM_001242896.3(DEPDC5):c.1909C>T (p.Arg637Ter) rs780960812 0.00004
NM_005912.3(MC4R):c.896C>A (p.Pro299His) rs52804924 0.00004
NM_016138.5(COQ7):c.319C>T (p.Arg107Trp) rs769570290 0.00004
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter) rs202086317 0.00004
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163 0.00003
NM_002340.6(LSS):c.1194+5G>A rs748758448 0.00003
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser) rs1278340100 0.00002
NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn) rs758829443 0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00002
NM_007059.4(KPTN):c.863G>A (p.Arg288Gln) rs772378754 0.00002
NM_000153.4(GALC):c.583-6T>A rs398123176 0.00001
NM_001005273.3(CHD3):c.5007_5008del (p.Asp1671fs) rs967826828 0.00001
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly) rs1255744452 0.00001
NM_022552.5(DNMT3A):c.875T>C (p.Ile292Thr) rs777306476 0.00001
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter) rs878855095 0.00001
NM_000170.3(GLDC):c.2259C>G (p.His753Gln) rs2129719894
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_001009944.3(PKD1):c.5976_5978del (p.Phe1992_Thr1993delinsLeu) rs2092438025
NM_001035.3(RYR2):c.14711G>A (p.Gly4904Asp) rs886038888
NM_001127222.2(CACNA1A):c.526G>A (p.Val176Met) rs1057521920
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs) rs752472169
NM_001303256.3(MORC2):c.328C>T (p.Arg110Cys) rs2040817364
NM_006009.4(TUBA1A):c.362G>A (p.Arg121Gln) rs2121246284
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_014008.5(CCDC22):c.622G>A (p.Glu208Lys) rs2147938135
NM_014305.4(TGDS):c.270_271del (p.Lys91fs) rs727502809
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg) rs1673582111
NM_020771.4(HACE1):c.2552dup (p.Gly852fs) rs745394044
NM_080647.1(TBX1):c.855G>C (p.Lys285Asn) rs2145836461

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