ClinVar Miner

List of variants studied for neuronal ceroid lipofuscinosis 3 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001042432.2(CLN3):c.1001G>A (p.Arg334His) rs386833695 0.00002
NM_001042432.2(CLN3):c.214C>T (p.Gln72Ter) rs386833709 0.00001
NM_001042432.2(CLN3):c.1268C>A (p.Ser423Ter) rs386833706
NM_001042432.2(CLN3):c.790+532_1056+1445del
NM_001042432.2(CLN3):c.944dup (p.His315fs) rs386833740

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