ClinVar Miner

List of variants in gene RP1L1 reported as likely pathogenic

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Gene type:
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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_178857.6(RP1L1):c.326_327insT (p.Lys111fs) rs771427543 0.00106
NM_178857.6(RP1L1):c.4004_4005insT (p.Val1336fs) rs781490139 0.00036
NM_178857.6(RP1L1):c.3925G>T (p.Gly1309Ter) rs758831525 0.00011
NM_178857.6(RP1L1):c.235C>T (p.Arg79Cys) rs377269054 0.00009
NM_178857.6(RP1L1):c.1189C>T (p.Arg397Ter) rs371886218 0.00005
NM_178857.6(RP1L1):c.328C>T (p.Pro110Ser) rs773440242 0.00005
NM_178857.6(RP1L1):c.1451del (p.Ser484fs) rs749460193 0.00004
NM_178857.6(RP1L1):c.1107G>A (p.Trp369Ter) rs567106336 0.00002
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017 0.00001
NM_178857.6(RP1L1):c.1972C>T (p.Arg658Ter) rs527236107 0.00001
NM_178857.6(RP1L1):c.2480C>G (p.Ser827Ter) rs763759470 0.00001
NM_178857.6(RP1L1):c.5602C>T (p.Gln1868Ter) rs1045490638 0.00001
NM_178857.6(RP1L1):c.1024_1026delinsCTCCT (p.Arg342fs) rs1797899160
NM_178857.6(RP1L1):c.1215T>G (p.Tyr405Ter)
NM_178857.6(RP1L1):c.1288C>T (p.Gln430Ter)
NM_178857.6(RP1L1):c.1549C>T (p.Gln517Ter) rs767562322
NM_178857.6(RP1L1):c.1779G>T (p.Thr593=)
NM_178857.6(RP1L1):c.196G>C (p.Asp66His) rs760478436
NM_178857.6(RP1L1):c.2053_2056del (p.Gln685fs) rs1797868307
NM_178857.6(RP1L1):c.2077C>T (p.Arg693Ter)
NM_178857.6(RP1L1):c.2380G>T (p.Glu794Ter) rs267601690
NM_178857.6(RP1L1):c.25C>T (p.Gln9Ter) rs1486810062
NM_178857.6(RP1L1):c.3026_3029del (p.Ala1009fs)
NM_178857.6(RP1L1):c.330dup (p.Lys111fs) rs770312128
NM_178857.6(RP1L1):c.3509C>A (p.Ser1170Ter) rs774522259
NM_178857.6(RP1L1):c.3595T>G (p.Ser1199Ala) rs1797825562
NM_178857.6(RP1L1):c.397G>T (p.Glu133Ter)
NM_178857.6(RP1L1):c.403C>T (p.Gln135Ter) rs2117226120
NM_178857.6(RP1L1):c.4403dup (p.Ser1469fs)
NM_178857.6(RP1L1):c.4483C>T (p.Pro1495Ser)
NM_178857.6(RP1L1):c.5033del (p.Ala1678fs) rs1797772026
NM_178857.6(RP1L1):c.5154G>C (p.Thr1718=)
NM_178857.6(RP1L1):c.5308C>T (p.Gln1770Ter) rs986853401
NM_178857.6(RP1L1):c.5438A>G (p.Asn1813Ser)
NM_178857.6(RP1L1):c.5821C>T (p.Gln1941Ter) rs201017122
NM_178857.6(RP1L1):c.583C>T (p.Gln195Ter)
NM_178857.6(RP1L1):c.6124C>T (p.Gln2042Ter)
NM_178857.6(RP1L1):c.796_797insTT (p.Ser266fs)
NM_178857.6(RP1L1):c.831del (p.Arg277fs) rs1797910388

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