ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Geisinger Autism and Developmental Medicine Institute, Geisinger Health System and "likely pathogenic" from any submitter

Minimum review status of the submission from Geisinger Autism and Developmental Medicine Institute, Geisinger Health System: Collection method of the submission from Geisinger Autism and Developmental Medicine Institute, Geisinger Health System:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111 0.00004
NM_000199.5(SGSH):c.673T>C (p.Phe225Leu) rs1057521801
NM_006516.4(SLC2A1):c.1199G>A (p.Arg400His) rs776095655
Single allele

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