ClinVar Miner

List of variants in gene TULP1 reported as pathogenic for Leber congenital amaurosis 1

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_003322.6(TULP1):c.1496-6C>A rs281865171 0.00011
NM_003322.6(TULP1):c.1560C>A (p.Tyr520Ter) rs773968778 0.00003
NM_003322.6(TULP1):c.1349G>A (p.Trp450Ter) rs1581736099
NM_003322.6(TULP1):c.1388del (p.Asn463fs) rs1581736024
NM_003322.6(TULP1):c.1495+2dup rs1581735836
NM_003322.6(TULP1):c.524dup (p.Pro176fs) rs1327062642
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.790C>T (p.Gln264Ter) rs2150926986
NM_003322.6(TULP1):c.832_833insTCCC (p.Glu278fs) rs1581740762
NM_003322.6(TULP1):c.901C>T (p.Gln301Ter) rs201070350

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