ClinVar Miner

List of variants in gene ATN1 reported as pathogenic for congenital hypotonia, epilepsy, developmental delay, and digital anomalies

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001940.4(ATN1):c.3155A>C (p.His1052Pro) rs2138219892
NM_001940.4(ATN1):c.3160C>A (p.His1054Asn) rs1555144357
NM_001940.4(ATN1):c.3165_3176del (p.Ile1057_His1060del) rs2138219913
NM_001940.4(ATN1):c.3172C>T (p.His1058Tyr) rs1555144358
NM_001940.4(ATN1):c.3177_3178insAACCTG (p.Ser1059_His1060insAsnLeu) rs1064795494
NM_001940.4(ATN1):c.3178C>T (p.His1060Tyr) rs797044566
NM_001940.4(ATN1):c.3185A>G (p.His1062Arg) rs1565569158

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