ClinVar Miner

List of variants reported for Ceroid lipofuscinosis, neuronal, 6A by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser)	rs764571295	0.00003
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser)	rs150363441	0.00002
NM_017882.3(CLN6):c.395_396del (p.Ser132fs)	rs774543080
NM_017882.3(CLN6):c.542+5G>T	rs786205066
NM_017882.3(CLN6):c.883T>C (p.Tyr295His)	rs2505401169

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