ClinVar Miner

List of variants in gene combination PYROXD1, RECQL reported as uncertain significance for Hereditary cancer-predisposing syndrome

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Total variants: 109
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HGVS dbSNP gnomAD frequency
NM_002907.4(RECQL):c.1798-2A>T rs756192830 0.00123
NM_002907.4(RECQL):c.1859C>G (p.Ser620Ter) rs142038240 0.00088
NM_002907.4(RECQL):c.1675T>A (p.Tyr559Asn) rs150680552 0.00014
NM_002907.4(RECQL):c.1765C>G (p.Gln589Glu) rs753139296 0.00006
NM_002907.4(RECQL):c.1855A>C (p.Asn619His) rs762888181 0.00006
NM_002907.4(RECQL):c.1742A>G (p.Asn581Ser) rs758132730 0.00004
NM_002907.4(RECQL):c.1781C>T (p.Thr594Met) rs372947261 0.00004
NM_002907.4(RECQL):c.1703C>T (p.Ser568Leu) rs759728105 0.00003
NM_002907.4(RECQL):c.1696A>G (p.Thr566Ala) rs753260342 0.00002
NM_002907.4(RECQL):c.1676A>G (p.Tyr559Cys) rs1942943333 0.00001
NM_002907.4(RECQL):c.1741A>G (p.Asn581Asp) rs1400162004 0.00001
NM_002907.4(RECQL):c.1752T>G (p.His584Gln) rs1942938964 0.00001
NM_002907.4(RECQL):c.1763T>A (p.Met588Lys) rs371403952 0.00001
NM_002907.4(RECQL):c.1795A>G (p.Arg599Gly) rs773438480 0.00001
NM_002907.4(RECQL):c.1831G>C (p.Gly611Arg) rs541752188 0.00001
NM_002907.4(RECQL):c.1668A>C (p.Lys556Asn)
NM_002907.4(RECQL):c.1669G>A (p.Glu557Lys)
NM_002907.4(RECQL):c.1670A>C (p.Glu557Ala)
NM_002907.4(RECQL):c.1672G>T (p.Asp558Tyr)
NM_002907.4(RECQL):c.1674C>G (p.Asp558Glu) rs1565561097
NM_002907.4(RECQL):c.1676A>C (p.Tyr559Ser)
NM_002907.4(RECQL):c.1677_1678del (p.Tyr559_Ser560delinsTer)
NM_002907.4(RECQL):c.1678A>C (p.Ser560Arg)
NM_002907.4(RECQL):c.1679G>C (p.Ser560Thr)
NM_002907.4(RECQL):c.1694C>G (p.Ala565Gly) rs1248986058
NM_002907.4(RECQL):c.1694C>T (p.Ala565Val) rs1248986058
NM_002907.4(RECQL):c.1697C>T (p.Thr566Ile)
NM_002907.4(RECQL):c.1700T>C (p.Ile567Thr)
NM_002907.4(RECQL):c.1710G>C (p.Leu570Phe)
NM_002907.4(RECQL):c.1710G>T (p.Leu570Phe)
NM_002907.4(RECQL):c.1715T>C (p.Ile572Thr)
NM_002907.4(RECQL):c.1717G>A (p.Gly573Arg)
NM_002907.4(RECQL):c.1718G>A (p.Gly573Glu)
NM_002907.4(RECQL):c.1721C>T (p.Pro574Leu)
NM_002907.4(RECQL):c.1729A>C (p.Asn577His)
NM_002907.4(RECQL):c.1730A>C (p.Asn577Thr)
NM_002907.4(RECQL):c.1731_1732delinsCT (p.Leu578Phe) rs2137311847
NM_002907.4(RECQL):c.1732C>T (p.Leu578Phe) rs777565272
NM_002907.4(RECQL):c.1736T>A (p.Leu579Gln)
NM_002907.4(RECQL):c.1740C>A (p.Asn580Lys)
NM_002907.4(RECQL):c.1741A>T (p.Asn581Tyr)
NM_002907.4(RECQL):c.1742A>T (p.Asn581Ile)
NM_002907.4(RECQL):c.1743T>A (p.Asn581Lys) rs1252730738
NM_002907.4(RECQL):c.1744G>A (p.Glu582Lys)
NM_002907.4(RECQL):c.1747G>T (p.Ala583Ser)
NM_002907.4(RECQL):c.1750C>T (p.His584Tyr) rs1318382161
NM_002907.4(RECQL):c.1757T>G (p.Ile586Ser)
NM_002907.4(RECQL):c.1758T>G (p.Ile586Met)
NM_002907.4(RECQL):c.1760C>A (p.Thr587Asn)
NM_002907.4(RECQL):c.1760C>T (p.Thr587Ile)
NM_002907.4(RECQL):c.1767del (p.Gln589_Val590insTer)
NM_002907.4(RECQL):c.1768G>A (p.Val590Met)
NM_002907.4(RECQL):c.1768G>C (p.Val590Leu)
NM_002907.4(RECQL):c.1771A>C (p.Thr591Pro)
NM_002907.4(RECQL):c.1778C>A (p.Ser593Tyr)
NM_002907.4(RECQL):c.1778C>T (p.Ser593Phe)
NM_002907.4(RECQL):c.1783C>T (p.Gln595Ter)
NM_002907.4(RECQL):c.1793T>G (p.Phe598Cys)
NM_002907.4(RECQL):c.1794C>A (p.Phe598Leu)
NM_002907.4(RECQL):c.1798-2_1798-1del rs1591964988
NM_002907.4(RECQL):c.1798-2_1798-1insT rs1565560075
NM_002907.4(RECQL):c.1801G>T (p.Glu601Ter) rs1383372186
NM_002907.4(RECQL):c.1802A>C (p.Glu601Ala)
NM_002907.4(RECQL):c.1808C>T (p.Ser603Phe) rs767841512
NM_002907.4(RECQL):c.1814C>A (p.Thr605Asn)
NM_002907.4(RECQL):c.1814C>T (p.Thr605Ile)
NM_002907.4(RECQL):c.1817G>T (p.Cys606Phe) rs1191345404
NM_002907.4(RECQL):c.1817_1819del (p.Cys606_His607delinsTyr)
NM_002907.4(RECQL):c.1818T>A (p.Cys606Ter)
NM_002907.4(RECQL):c.1819C>T (p.His607Tyr)
NM_002907.4(RECQL):c.1826A>G (p.Glu609Gly)
NM_002907.4(RECQL):c.1835A>G (p.Asp612Gly)
NM_002907.4(RECQL):c.1837A>G (p.Lys613Glu)
NM_002907.4(RECQL):c.1838A>C (p.Lys613Thr)
NM_002907.4(RECQL):c.1838A>G (p.Lys613Arg)
NM_002907.4(RECQL):c.1841_1844dup (p.Met615fs)
NM_002907.4(RECQL):c.1842G>T (p.Lys614Asn)
NM_002907.4(RECQL):c.1844T>C (p.Met615Thr)
NM_002907.4(RECQL):c.1846G>T (p.Glu616Ter)
NM_002907.4(RECQL):c.1847A>T (p.Glu616Val)
NM_002907.4(RECQL):c.1847del (p.Glu616fs)
NM_002907.4(RECQL):c.1849G>A (p.Glu617Lys) rs17849407
NM_002907.4(RECQL):c.1849del (p.Glu617fs)
NM_002907.4(RECQL):c.1855_1857dup (p.Asn619dup) rs763975885
NM_002907.4(RECQL):c.1856A>T (p.Asn619Ile) rs2137305371
NM_002907.4(RECQL):c.1856dup (p.Asn619fs) rs1942906383
NM_002907.4(RECQL):c.1861G>C (p.Gly621Arg) rs2137305248
NM_002907.4(RECQL):c.1862G>A (p.Gly621Asp)
NM_002907.4(RECQL):c.1867T>G (p.Phe623Val)
NM_002907.4(RECQL):c.1869C>G (p.Phe623Leu) rs776400641
NM_002907.4(RECQL):c.1870C>T (p.Gln624Ter)
NM_002907.4(RECQL):c.1871A>C (p.Gln624Pro)
NM_002907.4(RECQL):c.1873AAG[1] (p.Lys626del)
NM_002907.4(RECQL):c.1874A>G (p.Lys625Arg)
NM_002907.4(RECQL):c.1874del (p.Lys625fs)
NM_002907.4(RECQL):c.1876A>G (p.Lys626Glu)
NM_002907.4(RECQL):c.1877A>C (p.Lys626Thr)
NM_002907.4(RECQL):c.1877A>G (p.Lys626Arg) rs555780310
NM_002907.4(RECQL):c.1885A>G (p.Asn629Asp)
NM_002907.4(RECQL):c.1885_1889del (p.Asn629fs)
NM_002907.4(RECQL):c.1898A>G (p.Gln633Arg)
NM_002907.4(RECQL):c.1903G>T (p.Gly635Cys)
NM_002907.4(RECQL):c.1918G>A (p.Gly640Arg)
NM_002907.4(RECQL):c.1919G>A (p.Gly640Glu)
NM_002907.4(RECQL):c.1922C>G (p.Ala641Gly)
NM_002907.4(RECQL):c.1922C>T (p.Ala641Val) rs1942902579
NM_002907.4(RECQL):c.1931G>T (p.Arg644Ile)
NM_002907.4(RECQL):c.1931_1936del (p.Arg644_Lys645del) rs752407422
NM_002907.4(RECQL):c.1936dup (p.Ile646fs)

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