ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago and "pathogenic" from any submitter

Minimum review status of the submission from Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago: Collection method of the submission from Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 23
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173 0.00010
NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg) rs137852618 0.00006
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) rs397516347 0.00004
NM_000448.3(RAG1):c.2348C>G (p.Ser783Ter) rs754502950 0.00003
NM_000071.3(CBS):c.828+1G>A rs763290176 0.00001
NM_000138.5(FBN1):c.4460-8G>A rs193922204 0.00001
NM_000277.3(PAH):c.755G>A (p.Arg252Gln) rs62644503 0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102 0.00001
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter) rs760126773 0.00001
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp) rs128624224
NM_000090.4(COL3A1):c.1052G>T (p.Gly351Val) rs587779498
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys) rs1555399372
NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser) rs397515791
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001184880.2(PCDH19):c.707C>T (p.Pro236Leu) rs1060502176
NM_001283009.2(RTEL1):c.649C>T (p.Gln217Ter) rs780546933
NM_001737.5(C9):c.1039_1042del (p.Ser347fs) rs1027370764

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