ClinVar Miner

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

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Total variants: 11
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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.1781C>T (p.Thr594Met) rs372947261 0.00004
NM_002907.4(RECQL):c.1694C>G (p.Ala565Gly) rs1248986058
NM_002907.4(RECQL):c.1750C>T (p.His584Tyr) rs1318382161
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.1808C>T (p.Ser603Phe) rs767841512
NM_002907.4(RECQL):c.1817G>T (p.Cys606Phe) rs1191345404
NM_002907.4(RECQL):c.1856A>T (p.Asn619Ile) rs2137305371

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