List of variants reported for Congenital hypotonia, epilepsy, developmental delay, and digital anomalies by Sydney Children's Hospital, SCHN

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001940.4(ATN1):c.3155A>C (p.His1052Pro)	rs2138219892
NM_001940.4(ATN1):c.3165_3176del (p.Ile1057_His1060del)	rs2138219913
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

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