ClinVar Miner

List of variants reported as pathogenic for GNPTG-mucolipidosis by Counsyl

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_032520.5(GNPTG):c.196C>T (p.Arg66Ter)	rs193302848	0.00001
NM_032520.4(GNPTG):c.499dup (p.Leu167Profs)	rs756959430
NM_032520.5(GNPTG):c.328G>T (p.Glu110Ter)	rs763678034

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