List of variants reported as pathogenic for Leber congenital amaurosis 15

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_003322.6(TULP1):c.148del (p.Glu50fs)	rs779910894	0.00011
NM_003322.6(TULP1):c.1495+1G>A	rs281865168	0.00003
NM_003322.6(TULP1):c.100C>T (p.Arg34Ter)	rs1331834680	0.00001
NM_003322.6(TULP1):c.1318C>T (p.Arg440Ter)	rs751589956	0.00001
NM_003322.6(TULP1):c.1024C>T (p.Arg342Ter)	rs767030473
NM_003322.6(TULP1):c.1081del (p.Arg361fs)	rs1761067640
NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp)	rs387906837
NM_003322.6(TULP1):c.1112+2T>G	rs1761066725
NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp)	rs387906836
NM_003322.6(TULP1):c.1204G>T (p.Glu402Ter)	rs387906835
NM_003322.6(TULP1):c.1582_1587dup (p.Ala529_Ile530insPheAla)	rs2150921548
NM_003322.6(TULP1):c.568G>T (p.Glu190Ter)	rs1761161294
NM_003322.6(TULP1):c.794del (p.Lys265fs)	rs1581742615
NM_003322.6(TULP1):c.901C>T (p.Gln301Ter)	rs201070350
NM_003322.6(TULP1):c.99+1G>A	rs281865166

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