ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_003322.6(TULP1):c.*278C>T rs886061335
NM_003322.6(TULP1):c.*305G>A rs149035389
NM_003322.6(TULP1):c.*31C>T rs886061336
NM_003322.6(TULP1):c.1341G>A (p.Leu447=) rs61734562
NM_003322.6(TULP1):c.1362G>A (p.Thr454=) rs41270076
NM_003322.6(TULP1):c.192T>C (p.Ala64=) rs886061337
NM_003322.6(TULP1):c.249G>A (p.Ala83=) rs377105125
NM_003322.6(TULP1):c.254A>G (p.Gln85Arg) rs754040672
NM_003322.6(TULP1):c.26G>A (p.Arg9Gln) rs886061338
NM_003322.6(TULP1):c.477G>C (p.Arg159Ser) rs749882966
NM_003322.6(TULP1):c.499+12G>C rs185636479
NM_003322.6(TULP1):c.544A>G (p.Arg182Gly) rs142641513
NM_003322.6(TULP1):c.559C>T (p.Pro187Ser) rs748334290
NM_003322.6(TULP1):c.823-8G>A rs372183095
NM_003322.6(TULP1):c.846G>A (p.Pro282=) rs149980694
NM_003322.6(TULP1):c.85C>T (p.Arg29Trp) rs148838796
NM_003322.6(TULP1):c.875G>A (p.Arg292Gln) rs140460892

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