List of variants in gene TULP1 reported as pathogenic for Leber congenital amaurosis

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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: 13

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HGVS	dbSNP	gnomAD frequency
NM_003322.6(TULP1):c.1496-6C>A	rs281865171	0.00010
NM_003322.6(TULP1):c.1199G>A (p.Arg400Gln)	rs748972748	0.00002
NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln)	rs770045008	0.00002
NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg)	rs62636511	0.00002
NM_003322.6(TULP1):c.1349G>A (p.Trp450Ter)	rs1581736099	0.00001
NM_003322.6(TULP1):c.1444C>T (p.Arg482Trp)	rs121909077	0.00001
NM_003322.6(TULP1):c.1087G>A (p.Gly363Arg)	rs1761067394
NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp)	rs387906837
NM_003322.6(TULP1):c.1495+2dup	rs1581735836
NM_003322.6(TULP1):c.528_529insT (p.Lys177Ter)	rs1581743256
NM_003322.6(TULP1):c.781_782insCTCC (p.Lys261fs)	rs1581742633
NM_003322.6(TULP1):c.832_833insTCCC (p.Glu278fs)	rs1581740762
NM_003322.6(TULP1):c.901C>T (p.Gln301Ter)	rs201070350

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