ClinVar Miner

List of variants in gene RECQL4 reported as uncertain significance for not specified

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Gene type:
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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.716C>T (p.Ala239Val) rs146709578 0.00129
NM_004260.4(RECQL4):c.308C>T (p.Pro103Leu) rs199543866 0.00082
NM_004260.4(RECQL4):c.3317G>A (p.Arg1106His) rs34236392 0.00053
NM_004260.4(RECQL4):c.2543G>A (p.Arg848His) rs368989729 0.00049
NM_004260.4(RECQL4):c.1160G>T (p.Gly387Val) rs369815468 0.00046
NM_004260.4(RECQL4):c.3055+5G>A rs377031190 0.00038
NM_004260.4(RECQL4):c.2426G>A (p.Gly809Glu) rs550469990 0.00036
NM_004260.4(RECQL4):c.214-3C>A rs367849648 0.00025
NM_004260.4(RECQL4):c.1219G>A (p.Glu407Lys) rs117670586 0.00023
NM_004260.4(RECQL4):c.2545G>A (p.Val849Met) rs201661055 0.00019
NM_004260.4(RECQL4):c.1697T>C (p.Leu566Pro) rs201648505 0.00018
NM_004260.4(RECQL4):c.2467G>A (p.Glu823Lys) rs368611522 0.00016
NM_004260.4(RECQL4):c.1115G>C (p.Arg372Thr) rs200097701 0.00015
NM_004260.4(RECQL4):c.2261G>A (p.Arg754Gln) rs190061994 0.00013
NM_004260.4(RECQL4):c.3394-9T>G rs746656592 0.00011
NM_004260.4(RECQL4):c.1852C>T (p.Arg618Trp) rs766726409 0.00006
NM_004260.4(RECQL4):c.962G>A (p.Gly321Glu) rs1220650736 0.00003
NM_004260.4(RECQL4):c.1493C>T (p.Thr498Met) rs376587038 0.00002
NM_004260.4(RECQL4):c.1028C>T (p.Pro343Leu) rs549381989
NM_004260.4(RECQL4):c.1130A>G (p.Gln377Arg) rs944826681
NM_004260.4(RECQL4):c.1270_1271delinsAT (p.Asp424Ile) rs2130708945
NM_004260.4(RECQL4):c.1396C>T (p.Pro466Ser) rs562809072
NM_004260.4(RECQL4):c.1649C>T (p.Ala550Val) rs764297840
NM_004260.4(RECQL4):c.2206G>A (p.Ala736Thr) rs864309583
NM_004260.4(RECQL4):c.2429_2431del (p.Gln810del) rs2130676571
NM_004260.4(RECQL4):c.266G>A (p.Ser89Asn) rs372648595
NM_004260.4(RECQL4):c.2768T>C (p.Leu923Ser)
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004260.4(RECQL4):c.3353G>A (p.Gly1118Asp) rs1276726206
NM_004260.4(RECQL4):c.3424G>C (p.Asp1142His) rs61755067
NM_004260.4(RECQL4):c.3574_3597del (p.Phe1192_Ala1199del) rs758966528
NM_004260.4(RECQL4):c.674C>T (p.Ser225Leu) rs753959069
NM_004260.4(RECQL4):c.929C>T (p.Pro310Leu) rs368504960

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