List of variants in gene VLDLR reported as likely 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: 17

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HGVS	dbSNP	gnomAD frequency
NM_003383.5(VLDLR):c.1666C>T (p.Arg556Ter)	rs141396971	0.00001
NM_003383.5(VLDLR):c.2T>C (p.Met1Thr)	rs797046092	0.00001
NM_003383.5(VLDLR):c.325+1G>A	rs778298702	0.00001
NM_003383.5(VLDLR):c.449-2A>T	rs1817896308	0.00001
NM_003383.5(VLDLR):c.1200C>A (p.Cys400Ter)
NM_003383.5(VLDLR):c.1441C>T (p.Gln481Ter)
NM_003383.5(VLDLR):c.1962+1G>A	rs2130801524
NM_003383.5(VLDLR):c.1962+2T>C	rs1563764078
NM_003383.5(VLDLR):c.2144G>A (p.Cys715Tyr)	rs761330915
NM_003383.5(VLDLR):c.2158del (p.Leu720fs)
NM_003383.5(VLDLR):c.2252-2A>C	rs149535475
NM_003383.5(VLDLR):c.2417-1G>T
NM_003383.5(VLDLR):c.2465G>A (p.Trp822Ter)	rs2130810631
NM_003383.5(VLDLR):c.262dup (p.Arg88fs)	rs2130785730
NM_003383.5(VLDLR):c.325+1del	rs2488718618
NM_003383.5(VLDLR):c.376C>T (p.Gln126Ter)	rs1404412704
NM_003383.5(VLDLR):c.436del (p.Glu146fs)

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