ClinVar Miner

Variants with conflicting interpretations "likely benign" from Illumina Laboratory Services, Illumina and "likely pathogenic" from any submitter

Minimum review status of the submission from Illumina Laboratory Services, Illumina: Collection method of the submission from Illumina Laboratory Services, Illumina:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 37
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HGVS dbSNP gnomAD frequency
NM_005373.3(MPL):c.340G>A (p.Val114Met) rs12731981 0.02191
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01276
UGT1A1*6 rs4148323 0.00891
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00419
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470 0.00211
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile) rs75442795 0.00172
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_000505.4(F12):c.1027G>C (p.Ala343Pro) rs183643295 0.00115
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_000274.4(OAT):c.1311G>T (p.Leu437Phe) rs1800456 0.00054
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749 0.00049
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu) rs56307355 0.00028
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00021
NM_002386.4(MC1R):c.515G>T (p.Ser172Ile) rs376670171 0.00011
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val) rs199473561 0.00004
NM_000546.6(TP53):c.91G>A (p.Val31Ile) rs201753350 0.00004
NM_012144.4(DNAI1):c.862C>T (p.Arg288Trp) rs202213517 0.00004
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000540.3(RYR1):c.4481T>C (p.Val1494Ala) rs767928113
NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del) rs371047178
NM_000540.3(RYR1):c.6353G>C (p.Arg2118Pro) rs201649680
NM_053025.4(MYLK):c.2149G>T (p.Asp717Tyr) rs150936840
NM_144773.4(PROKR2):c.253C>G (p.Arg85Gly) rs141090506
NM_207034.3(EDN3):c.565dup (p.Thr189fs) rs11570344

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