List of variants in gene TULP1 studied for Leber congenital amaurosis 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_003322.6(TULP1):c.783G>C (p.Lys261Asn)	rs2064318	0.84569
NM_003322.6(TULP1):c.776T>C (p.Ile259Thr)	rs2064317	0.36637
NM_003322.6(TULP1):c.1082G>A (p.Arg361Gln)	rs1313593155	0.00003
NM_003322.6(TULP1):c.1560C>A (p.Tyr520Ter)	rs773968778	0.00003
NM_003322.6(TULP1):c.931C>T (p.Arg311Trp)	rs373519519	0.00001
NM_003322.6(TULP1):c.1388del (p.Asn463fs)	rs1581736024
NM_003322.6(TULP1):c.524dup (p.Pro176fs)	rs1327062642

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