ClinVar Miner

List of variants studied for neuronal ceroid lipofuscinosis 3 by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NG_008654.2:g.(13298_14630)_(15199_19425)del
NG_008654.2:g.(9848_10812)_(19800_19939)del
NM_001042432.2(CLN3):c.461-280_677+382del rs1555468634
NM_001042432.2(CLN3):c.533+1G>C rs386833728

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