ClinVar Miner

List of variants in gene combination PYROXD1, RECQL reported by GeneDx

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Gene type:
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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_002907.4(RECQL):c.*6A>C rs13035 0.35992
NM_024854.5(PYROXD1):c.*203T>C rs7319 0.30216
NM_002907.4(RECQL):c.1731T>C (p.Asn577=) rs6500 0.11188
NM_002907.4(RECQL):c.1899A>G (p.Gln633=) rs17849408 0.10892
NM_002907.4(RECQL):c.1798-231T>C rs71530950 0.05468
NM_002907.4(RECQL):c.*306A>G rs71582885 0.03190
NM_002907.4(RECQL):c.*201A>G rs74067191 0.02188
NM_002907.4(RECQL):c.1798-4G>T rs557749011 0.01329
NM_002907.4(RECQL):c.*382G>A rs148073000 0.00560
NM_002907.4(RECQL):c.*1T>G rs143505576 0.00227
NM_002907.4(RECQL):c.*192T>C rs189275364 0.00115
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.1798-18T>A rs577735412 0.00011
NM_002907.4(RECQL):c.1782G>A (p.Thr594=) rs2417988 0.00008
NM_002907.4(RECQL):c.1704G>A (p.Ser568=) rs2417989 0.00007
NM_002907.4(RECQL):c.1855A>C (p.Asn619His) rs762888181 0.00006
NM_002907.4(RECQL):c.1805C>T (p.Ser602Leu) rs1158542687 0.00005
NM_002907.4(RECQL):c.1703C>T (p.Ser568Leu) rs759728105 0.00003
NM_002907.4(RECQL):c.1780A>T (p.Thr594Ser) rs377013226 0.00003
NM_002907.4(RECQL):c.1781C>T (p.Thr594Met) rs372947261 0.00003
NM_002907.4(RECQL):c.1679G>A (p.Ser560Asn) rs763502240 0.00002
NM_002907.4(RECQL):c.1696A>G (p.Thr566Ala) rs753260342 0.00002
NM_002907.4(RECQL):c.1889T>C (p.Met630Thr) rs1172091042 0.00002
NM_002907.4(RECQL):c.1741A>G (p.Asn581Asp) rs1400162004 0.00001
NM_002907.4(RECQL):c.1795A>G (p.Arg599Gly) rs773438480 0.00001
NM_002907.4(RECQL):c.1798-2A>C rs756192830 0.00001
NM_002907.4(RECQL):c.1831G>C (p.Gly611Arg) rs541752188 0.00001
NC_000012.12:g.21468736AGA[1] rs2540293929
NM_002907.4(RECQL):c.*433T>C rs1138675
NM_002907.4(RECQL):c.1668-81G>A rs74067192
NM_002907.4(RECQL):c.1694C>T (p.Ala565Val) rs1248986058
NM_002907.4(RECQL):c.1730A>C (p.Asn577Thr) rs2540314073
NM_002907.4(RECQL):c.1797+14_1797+17del rs71582883
NM_002907.4(RECQL):c.1798-12_1798-11insTTG rs770401516
NM_002907.4(RECQL):c.1798-13T>C rs2137306808
NM_002907.4(RECQL):c.1798-240_1798-236del rs199567816
NM_002907.4(RECQL):c.1798-5del rs368017481
NM_002907.4(RECQL):c.1798-5dup rs368017481
NM_002907.4(RECQL):c.1798-6_1798-5dup rs368017481
NM_002907.4(RECQL):c.1798-7_1798-5dup rs368017481
NM_002907.4(RECQL):c.1798-8_1798-5dup rs368017481
NM_002907.4(RECQL):c.1798-9_1798-5dup rs368017481
NM_002907.4(RECQL):c.1809T>C (p.Ser603=) rs2137306080
NM_002907.4(RECQL):c.1838A>G (p.Lys613Arg) rs763815034
NM_002907.4(RECQL):c.1855_1857dup (p.Asn619_Ser620insAsn) rs763975885
NM_002907.4(RECQL):c.1877A>G (p.Lys626Arg) rs555780310
NM_002907.4(RECQL):c.1931_1936del (p.Arg644_Lys645del) rs752407422

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