ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp) rs387906837
NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser) rs121909076
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.1259G>C (p.Arg420Pro) rs121909073
NM_003322.6(TULP1):c.1349G>A (p.Trp450Ter)
NM_003322.6(TULP1):c.1376T>A (p.Ile459Lys) rs121909075
NM_003322.6(TULP1):c.1388del (p.Asn463fs)
NM_003322.6(TULP1):c.1444C>T (p.Arg482Trp) rs121909077
NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu) rs121909074
NM_003322.6(TULP1):c.1495+1G>A rs281865168
NM_003322.6(TULP1):c.1511_1521del (p.Leu504fs)
NM_003322.6(TULP1):c.1560C>A (p.Tyr520Ter)
NM_003322.6(TULP1):c.524dup (p.Pro176fs) rs1327062642
NM_003322.6(TULP1):c.528_529insT (p.Lys177Ter)
NM_003322.6(TULP1):c.781_782insCTCC (p.Lys261fs)
NM_003322.6(TULP1):c.794del (p.Lys265fs)
NM_003322.6(TULP1):c.832_833insTCCC (p.Glu278fs)
NM_003322.6(TULP1):c.901C>T (p.Gln301Ter)
TULP1, 6-BP DUP, NT1593
TULP1, IVS14DS, G-A, +1
TULP1, IVS2DS, G-A, +1

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