ClinVar Miner

List of variants in gene ATN1 reported as likely pathogenic by Sydney Children's Hospital, SCHN

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001940.4(ATN1):c.3167A>C (p.His1056Pro) rs967375653
NM_001940.4(ATN1):c.3182TGCACC[1] (p.1061LH[1]) rs2138219961
NM_001940.4(ATN1):c.3182TGCACC[3] (p.1061LH[3]) rs2138219961
NM_001940.4(ATN1):c.3185A>G (p.His1062Arg) rs1565569158

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