ClinVar Miner

List of variants in gene RINT1 reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_021930.6(RINT1):c.1333+1G>A rs375350359 0.00005
NM_021930.6(RINT1):c.1555C>T (p.Arg519Ter) rs759853907 0.00004
NM_021930.6(RINT1):c.1603C>T (p.Arg535Ter) rs764298491 0.00003
NM_021930.6(RINT1):c.1102G>A (p.Ala368Thr) rs545894353 0.00001
NC_000007.13:g.(?_105182845)_(105183106_?)del
NC_000007.13:g.(?_105187351)_(105192160_?)del
NC_000007.13:g.(?_105190492)_(105192164_?)del
NC_000007.14:g.(?_105532306)_(105536759_?)del
NC_000007.14:g.(?_105542398)_(105551717_?)del
NM_021930.6(RINT1):c.105del (p.Val36fs)
NM_021930.6(RINT1):c.1066C>T (p.Gln356Ter)
NM_021930.6(RINT1):c.1109T>C (p.Leu370Pro) rs1562849964
NM_021930.6(RINT1):c.1296_1297del (p.Glu432fs)
NM_021930.6(RINT1):c.1333+1G>T rs375350359
NM_021930.6(RINT1):c.1348dup (p.Met450fs) rs1554363883
NM_021930.6(RINT1):c.1510C>T (p.Gln504Ter)
NM_021930.6(RINT1):c.1519G>T (p.Glu507Ter)
NM_021930.6(RINT1):c.1586del (p.Arg529fs)
NM_021930.6(RINT1):c.1626del (p.Ala542_Val543insTer)
NM_021930.6(RINT1):c.165T>G (p.Tyr55Ter) rs1350432366
NM_021930.6(RINT1):c.1672-1G>A
NM_021930.6(RINT1):c.1672-1G>C
NM_021930.6(RINT1):c.1726_1727del (p.Leu576fs) rs2133463883
NM_021930.6(RINT1):c.1738del (p.Gln580fs) rs1791557727
NM_021930.6(RINT1):c.1773_1776dup (p.Asp593delinsLeuTer)
NM_021930.6(RINT1):c.1782_1789del (p.Asp594fs) rs1791561360
NM_021930.6(RINT1):c.1849G>T (p.Glu617Ter) rs1421126665
NM_021930.6(RINT1):c.1853_1858del (p.Val618_Lys619del) rs1554367227
NM_021930.6(RINT1):c.310C>T (p.Arg104Ter) rs777242801
NM_021930.6(RINT1):c.326del (p.Asn109fs)
NM_021930.6(RINT1):c.338C>G (p.Ser113Ter)
NM_021930.6(RINT1):c.373dup (p.Thr125fs) rs1293925787
NM_021930.6(RINT1):c.390del (p.Ile131fs) rs771302691
NM_021930.6(RINT1):c.617del (p.Cys206fs) rs1790695219
NM_021930.6(RINT1):c.643del (p.Ala215fs)
NM_021930.6(RINT1):c.659G>A (p.Trp220Ter) rs1790697157
NM_021930.6(RINT1):c.740del (p.Pro247fs) rs1352349454
NM_021930.6(RINT1):c.766C>T (p.Arg256Ter) rs144994876
NM_021930.6(RINT1):c.796del (p.Tyr266fs)
NM_021930.6(RINT1):c.896_915dup (p.Ile306fs) rs1790785997

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