List of variants in gene combination CTSD, LOC130005119 reported as uncertain significance for Neuronal ceroid lipofuscinosis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu)	rs757712173	0.00067
NM_001909.5(CTSD):c.14G>C (p.Ser5Thr)	rs764386803	0.00010
NM_001909.5(CTSD):c.19C>G (p.Leu7Val)	rs1470191996	0.00002
NM_001909.5(CTSD):c.14G>T (p.Ser5Ile)	rs764386803
NM_001909.5(CTSD):c.16C>T (p.Leu6Phe)	rs1590909993
NM_001909.5(CTSD):c.1A>G (p.Met1Val)
NM_001909.5(CTSD):c.22C>T (p.Pro8Ser)	rs1590909988
NM_001909.5(CTSD):c.8C>A (p.Pro3His)
NM_001909.5(CTSD):c.8C>G (p.Pro3Arg)

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