List of variants in gene TULP1 reported as pathogenic for Retinitis pigmentosa 14; Leber congenital amaurosis 15

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_003322.6(TULP1):c.148del (p.Glu50fs)	rs779910894	0.00011
NM_003322.6(TULP1):c.187G>T (p.Gly63Ter)	rs757725696	0.00005
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.1199G>A (p.Arg400Gln)	rs748972748	0.00001
NM_003322.6(TULP1):c.1318C>T (p.Arg440Ter)	rs751589956	0.00001
NM_003322.6(TULP1):c.238C>T (p.Gln80Ter)	rs1309100490	0.00001
NM_003322.6(TULP1):c.1047T>G (p.Asn349Lys)	rs763272975
NM_003322.6(TULP1):c.1255C>T (p.Arg419Trp)	rs775334320
NM_003322.6(TULP1):c.310del (p.Glu104fs)
NM_003322.6(TULP1):c.629C>G (p.Ser210Ter)	rs1761158425
NM_003322.6(TULP1):c.901del (p.Gln301fs)	rs62636292

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