ClinVar Miner

List of variants studied for neuronal ceroid lipofuscinosis by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (26):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)	rs112239768	0.01081
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys)	rs138611001	0.00910
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg)	rs199727787	0.00116
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)	rs142269885	0.00083

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