ClinVar Miner

List of variants reported for Congenital ATN1 related disorder by Sydney Children's Hospital, SCHN

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001940.4(ATN1):c.3160C>A (p.His1054Asn) rs1555144357
NM_001940.4(ATN1):c.3172C>T (p.His1058Tyr) rs1555144358
NM_001940.4(ATN1):c.3185A>G (p.His1062Arg) rs1565569158
NM_001940.4(ATN1):c.3188T>G (p.Leu1063Arg) rs1555144360

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