ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University and "pathogenic" from any submitter

Minimum review status of the submission from Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University: Collection method of the submission from Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_000016.6(ACADM):c.50G>A (p.Arg17His) rs17848070 0.00004
NM_000016.6(ACADM):c.449_452del (p.Thr150fs) rs786204642
NM_014946.4(SPAST):c.1775T>A (p.Ile592Lys) rs1553321237
NM_133433.4(NIPBL):c.6647ATA[2] (p.Asn2218del) rs587784022

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