ClinVar Miner

List of variants reported as likely pathogenic for Retinitis pigmentosa 14; Leber congenital amaurosis 15

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_003322.6(TULP1):c.1496-6C>A rs281865171 0.00011
NM_003322.6(TULP1):c.1495+1G>A rs281865168 0.00003
NM_003322.6(TULP1):c.932G>A (p.Arg311Gln) rs1279906432 0.00002
NM_003322.6(TULP1):c.349G>A (p.Glu117Lys) rs527236117 0.00001
NM_003322.6(TULP1):c.931C>T (p.Arg311Trp) rs373519519 0.00001
NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp) rs387906837
NM_003322.6(TULP1):c.1255del (p.Arg419fs) rs1387418594
NM_003322.6(TULP1):c.1388del (p.Asn463fs) rs1581736024
NM_003322.6(TULP1):c.1445G>T (p.Arg482Leu)
NM_003322.6(TULP1):c.1592C>T (p.Ala531Val)
NM_003322.6(TULP1):c.715_718del (p.Lys239fs)
NM_003322.6(TULP1):c.806_807dup (p.Gly270fs)
NM_003322.6(TULP1):c.821del (p.Lys274fs) rs774204108
NM_003322.6(TULP1):c.822+1G>A
NM_003322.6(TULP1):c.961T>G (p.Tyr321Asp) rs794726991
NM_003322.6(TULP1):c.963T>G (p.Tyr321Ter)

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