List of variants in gene VLDLR reported as pathogenic for cerebellar degeneration

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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: 14

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HGVS	dbSNP	gnomAD frequency
NM_003383.5(VLDLR):c.83-1G>A	rs770269674	0.00001
NM_003383.5(VLDLR):c.835C>T (p.Arg279Ter)	rs1428899305	0.00001
NM_003383.5(VLDLR):c.1249_1255del (p.Tyr417fs)	rs398122380
NM_003383.5(VLDLR):c.1342C>T (p.Arg448Ter)	rs80338905
NM_003383.5(VLDLR):c.149G>A (p.Trp50Ter)
NM_003383.5(VLDLR):c.1724G>A (p.Trp575Ter)
NM_003383.5(VLDLR):c.1961A>G (p.Glu654Gly)
NM_003383.5(VLDLR):c.2117G>T (p.Cys706Phe)	rs397514750
NM_003383.5(VLDLR):c.2339del (p.Ile780fs)	rs80338906
NM_003383.5(VLDLR):c.2465G>A (p.Trp822Ter)	rs2130810631
NM_003383.5(VLDLR):c.769C>T (p.Arg257Ter)	rs80338907
NM_003383.5(VLDLR):c.820+1G>A
NM_003383.5(VLDLR):c.821-1G>A
NM_003383.5(VLDLR):c.901C>T (p.Arg301Ter)

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