ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia and "likely pathogenic" from any submitter

Minimum review status of the submission from Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia: Collection method of the submission from Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 49
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HGVS dbSNP gnomAD frequency
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_030653.4(DDX11):c.1763-1G>C rs148856317 0.00024
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078 0.00003
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter) rs570388861 0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125 0.00003
NM_000143.4(FH):c.1020T>A (p.Asn340Lys) rs398123159 0.00001
NM_000143.4(FH):c.1255T>C (p.Ser419Pro) rs200004220 0.00001
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup) rs757650373 0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_144672.4(OTOA):c.755G>A (p.Trp252Ter) rs879255431 0.00001
NM_000141.5(FGFR2):c.1007A>G (p.Asp336Gly) rs1057519042
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000143.4(FH):c.320A>C (p.Asn107Thr) rs121913121
NM_000143.4(FH):c.556-2A>T rs750273092
NM_000147.5(FUCA1):c.1082G>A (p.Trp361Ter) rs864309551
NM_000551.4(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del) rs5030648
NM_000551.4(VHL):c.232A>G (p.Asn78Asp) rs869025621
NM_000551.4(VHL):c.239G>T (p.Ser80Ile) rs5030805
NM_000551.4(VHL):c.256C>T (p.Pro86Ser) rs398123481
NM_000551.4(VHL):c.257C>T (p.Pro86Leu) rs730882034
NM_000551.4(VHL):c.293A>G (p.Tyr98Cys) rs864321643
NM_000551.4(VHL):c.433_439del (p.Gln145fs) rs1559428217
NM_000551.4(VHL):c.485G>A (p.Cys162Tyr) rs397516444
NM_001253852.3(AP4B1):c.114-2A>C rs879255396
NM_001253852.3(AP4B1):c.530_531insA (p.Asn178fs) rs879255397
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter) rs876658461
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro) rs864309609
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) rs886040995
NM_017780.4(CHD7):c.7802dup (p.Tyr2601Ter) rs886040998
NM_144997.7(FLCN):c.1300+1G>A rs879255676
NM_144997.7(FLCN):c.1389C>A (p.Tyr463Ter) rs137852929
NM_144997.7(FLCN):c.250-1G>A rs786202081
NM_144997.7(FLCN):c.250-2A>G rs398124533

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