ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and "uncertain significance" 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: 18
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HGVS dbSNP
NM_000016.5(ACADM):c.127G>A (p.Glu43Lys) rs147559466
NM_000046.5(ARSB):c.215T>A (p.Leu72Gln) rs397514441
NM_000153.4(GALC):c.349A>G (p.Met117Val) rs145580093
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001271208.2(NEB):c.19944G>A (p.Ser6648=) rs201553266
NM_002693.2(POLG):c.2554C>T rs144500145
NM_002693.2(POLG):c.3139C>T (p.Arg1047Trp) rs181860632
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261
NM_176787.5(PIGN):c.283C>T (p.Arg95Trp) rs558341655

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