ClinVar Miner

Variants with conflicting interpretations "benign" from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and "pathogenic" from any submitter

Minimum review status of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics: Collection method of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 27
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HGVS dbSNP
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000335.4(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962
NM_000420.3(KEL):c.1790T>C (p.Leu597Pro) rs8176038
NM_000487.6(ARSA):c.*96A>G rs6151429
NM_000489.5(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_001031681.2(CTNS):c.124G>A (p.Val42Ile) rs35086888
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) rs5736
NM_001079846.1(CREBBP):c.2614A>G (p.Thr872Ala) rs143247685
NM_001083116.3(PRF1):c.11G>A (p.Arg4His) rs35418374
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_002052.5(GATA4):c.1273G>A (p.Asp425Asn) rs56208331
NM_003597.5(KLF11):c.659C>T (p.Thr220Met) rs34336420
NM_004992.3(MECP2):c.602C>T (p.Ala201Val) rs61748381
NM_005045.4(RELN):c.2932A>G (p.Thr978Ala) rs3025962
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370
NM_014946.3(SPAST):c.131C>T (p.Ser44Leu) rs121908515
NM_018849.3(ABCB4):c.523A>G (p.Thr175Ala) rs58238559
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756
NM_033056.4(PCDH15):c.5598_5600AAC[1] (p.Thr1869del) rs113363047
NM_033409.4(SLC52A3):c.1048T>A (p.Leu350Met) rs76947760
NM_153767.3(KCNJ1):c.1013T>C (p.Met338Thr) rs59172778
NM_175053.4(KRT74):c.821T>C (p.Phe274Ser) rs147962513

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