ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota and "likely pathogenic" from any submitter

Minimum review status of the submission from Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota: Collection method of the submission from Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP gnomAD frequency
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_138691.3(TMC1):c.1763+3A>G rs370898981 0.00056
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952 0.00012
NM_032861.4(SERAC1):c.1159C>T (p.Arg387Ter) rs1220930025 0.00006
NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr) rs201941476 0.00003
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493 0.00001
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met) rs745360675 0.00001
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter) rs1013801316 0.00001
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp) rs763159520 0.00001
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser) rs1569541088
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) rs1247378731
NM_000138.5(FBN1):c.6379+1G>A rs397515833
NM_000478.6(ALPL):c.247G>T (p.Glu83Ter) rs2148152544
NM_000548.5(TSC2):c.1343T>C (p.Leu448Pro) rs397515206
NM_001164508.2(NEB):c.23378del (p.Met7793fs) rs1553603690
NM_003060.4(SLC22A5):c.1556_1559dup (p.Ile521fs) rs386134225
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_176824.3(BBS7):c.389_390del (p.Asn130fs) rs863224530

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