ClinVar Miner

List of variants in gene TULP1 studied for Leber congenital amaurosis

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP
NM_003322.4(TULP1):c.776T>C (p.Ile259Thr) rs2064317
NM_003322.4(TULP1):c.783G>C (p.Lys261Asn) rs2064318
NM_003322.5(TULP1):c.*268C>A rs114707578
NM_003322.5(TULP1):c.*273delC rs112061946
NM_003322.5(TULP1):c.*278C>T rs886061335
NM_003322.5(TULP1):c.*305G>A rs149035389
NM_003322.5(TULP1):c.*318T>G rs1051952
NM_003322.5(TULP1):c.*31C>T rs886061336
NM_003322.5(TULP1):c.1102G>T (p.Gly368Trp) rs387906837
NM_003322.5(TULP1):c.1145T>C (p.Phe382Ser) rs121909076
NM_003322.5(TULP1):c.1204G>T (p.Glu402Ter) rs387906835
NM_003322.5(TULP1):c.1259G>C (p.Arg420Pro) rs121909073
NM_003322.5(TULP1):c.1341G>A (p.Leu447=) rs61734562
NM_003322.5(TULP1):c.1362G>A (p.Thr454=) rs41270076
NM_003322.5(TULP1):c.1376T>A (p.Ile459Lys) rs121909075
NM_003322.5(TULP1):c.1444C>T (p.Arg482Trp) rs121909077
NM_003322.5(TULP1):c.1471T>C (p.Phe491Leu) rs121909074
NM_003322.5(TULP1):c.1495+1G>A rs281865168
NM_003322.5(TULP1):c.192T>C (p.Ala64=) rs886061337
NM_003322.5(TULP1):c.249G>A (p.Ala83=) rs377105125
NM_003322.5(TULP1):c.254A>G (p.Gln85Arg) rs754040672
NM_003322.5(TULP1):c.26G>A (p.Arg9Gln) rs886061338
NM_003322.5(TULP1):c.477G>C (p.Arg159Ser) rs749882966
NM_003322.5(TULP1):c.499+12G>C rs185636479
NM_003322.5(TULP1):c.524dup (p.Pro176Thrfs) rs1327062642
NM_003322.5(TULP1):c.544A>G (p.Arg182Gly) rs142641513
NM_003322.5(TULP1):c.559C>T (p.Pro187Ser) rs748334290
NM_003322.5(TULP1):c.823-8G>A rs372183095
NM_003322.5(TULP1):c.846G>A (p.Pro282=) rs149980694
NM_003322.5(TULP1):c.85C>T (p.Arg29Trp) rs148838796
NM_003322.5(TULP1):c.875G>A (p.Arg292Gln) rs140460892
NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp) rs387906836
NM_003322.6(TULP1):c.200C>G (p.Thr67Arg) rs7764472
TULP1, 11-BP DEL, NT1511
TULP1, 6-BP DUP, NT1593
TULP1, IVS14DS, G-A, +1
TULP1, IVS2DS, G-A, +1
TULP1, IVS7DS, T-C, +2

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