ClinVar Miner

List of variants in gene RIC3, TUB studied for retinitis pigmentosa

Included ClinVar conditions (154):
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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_177972.3(TUB):c.566-32C>A rs7931842 0.99757
NM_177972.3(TUB):c.565+16A>G rs11041739 0.99683
NM_177972.3(TUB):c.566-47C>G rs10160258 0.96273
NM_177972.3(TUB):c.397+26C>G rs7396690 0.79455
NM_177972.3(TUB):c.360T>C (p.Gly120=) rs4758289 0.32302
NM_177972.3(TUB):c.1388-10T>G rs150402974 0.00097
NM_177972.3(TUB):c.358G>A (p.Gly120Ser) rs146650842 0.00043
NM_177972.3(TUB):c.364G>A (p.Ala122Thr) rs201324153 0.00021
NM_177972.3(TUB):c.1270G>A (p.Glu424Lys) rs370188104 0.00017
NM_177972.3(TUB):c.1232T>A (p.Leu411Gln) rs200239459 0.00006
NM_177972.3(TUB):c.451G>A (p.Val151Met) rs767402711 0.00006
NM_177972.3(TUB):c.1498G>A (p.Asp500Asn) rs368907491 0.00004
NM_177972.3(TUB):c.1159G>A (p.Val387Met) rs1214536528 0.00002
NM_177972.3(TUB):c.1210C>T (p.Arg404Cys) rs139170512 0.00002
NM_177972.3(TUB):c.1388C>T (p.Pro463Leu) rs369604607 0.00001
NM_177972.3(TUB):c.1194_1195del (p.Arg398fs) rs727502810
NM_177972.3(TUB):c.1215+1G>A rs1589996458
NM_177972.3(TUB):c.1388-22_1388-19del rs66906803
NM_177972.3(TUB):c.1425G>C (p.Glu475Asp)
NM_177972.3(TUB):c.293C>T (p.Ala98Val) rs909748733
NM_177972.3(TUB):c.722A>G (p.Glu241Gly)
NM_177972.3(TUB):c.728C>T (p.Pro243Leu) rs1944038804
NM_177972.3(TUB):c.885+7T>C rs776753352

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