ClinVar Miner

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

Included ClinVar conditions (50):
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Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_003322.6(TULP1):c.1341G>A (p.Leu447=) rs61734562 0.00456
NM_003322.6(TULP1):c.499+12G>C rs185636479 0.00347
NM_003322.6(TULP1):c.544A>G (p.Arg182Gly) rs142641513 0.00121
NM_003322.6(TULP1):c.797G>T (p.Gly266Val) rs150480343 0.00111
NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr) rs141980901 0.00107
NM_003322.6(TULP1):c.823-4A>G rs200264819 0.00046
NM_003322.6(TULP1):c.249G>A (p.Ala83=) rs377105125 0.00029
NM_003322.6(TULP1):c.901C>G (p.Gln301Glu) rs201070350 0.00028
NM_003322.6(TULP1):c.603G>A (p.Gly201=) rs117920214 0.00021
NM_003322.6(TULP1):c.771G>A (p.Thr257=) rs189081258 0.00016
NM_003322.6(TULP1):c.1152C>T (p.Asn384=) rs371436525 0.00013
NM_003322.6(TULP1):c.541G>C (p.Val181Leu) rs576738703 0.00013
NM_003322.6(TULP1):c.1169G>A (p.Arg390His) rs139402633 0.00009
NM_003322.6(TULP1):c.184C>T (p.Pro62Ser) rs781650198 0.00009
NM_003322.6(TULP1):c.*305G>A rs149035389 0.00008
NM_003322.6(TULP1):c.296A>G (p.Lys99Arg) rs145518705 0.00006
NM_003322.6(TULP1):c.1495+3G>A rs758668547 0.00004
NM_003322.6(TULP1):c.457G>A (p.Ala153Thr) rs145351282 0.00004
NM_003322.6(TULP1):c.875G>A (p.Arg292Gln) rs140460892 0.00004
NM_003322.6(TULP1):c.1112+8T>C rs1286919081 0.00002
NM_003322.6(TULP1):c.1563G>A (p.Pro521=) rs1031077618 0.00002
NM_003322.6(TULP1):c.559C>T (p.Pro187Ser) rs748334290 0.00002
NM_003322.6(TULP1):c.682G>A (p.Glu228Lys) rs1469121973 0.00002
NM_003322.6(TULP1):c.719G>A (p.Gly240Asp) rs773120841 0.00002
NM_003322.6(TULP1):c.823-8G>A rs372183095 0.00002
NM_003322.6(TULP1):c.85C>T (p.Arg29Trp) rs148838796 0.00002
NM_003322.6(TULP1):c.1025G>A (p.Arg342Gln) rs756856544 0.00001
NM_003322.6(TULP1):c.1569C>T (p.Cys523=) rs768536269 0.00001
NM_003322.6(TULP1):c.192T>C (p.Ala64=) rs886061337 0.00001
NM_003322.6(TULP1):c.254A>G (p.Gln85Arg) rs754040672 0.00001
NM_003322.6(TULP1):c.349G>A (p.Glu117Lys) rs527236117 0.00001
NM_003322.6(TULP1):c.904G>A (p.Gly302Ser) rs765321084 0.00001
NM_003322.6(TULP1):c.*272C>G rs1231614922
NM_003322.6(TULP1):c.*278C>T rs886061335
NM_003322.6(TULP1):c.*31C>T rs886061336
NM_003322.6(TULP1):c.1016G>A (p.Gly339Asp) rs1761069157
NM_003322.6(TULP1):c.1087G>A (p.Gly363Arg) rs1761067394
NM_003322.6(TULP1):c.1113-9_1113delinsCATC rs2150924300
NM_003322.6(TULP1):c.1135T>C (p.Phe379Leu)
NM_003322.6(TULP1):c.1475A>G (p.Gln492Arg)
NM_003322.6(TULP1):c.1612A>C (p.Lys538Gln) rs1768748235
NM_003322.6(TULP1):c.224C>T (p.Ser75Phe) rs1244588827
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.647C>T (p.Ala216Val) rs754221623
NM_003322.6(TULP1):c.846G>A (p.Pro282=) rs149980694
NM_003322.6(TULP1):c.999+5G>A rs2150925392

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