ClinVar Miner

List of variants in gene RECQL4 reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

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Gene type:
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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.1868G>A (p.Arg623His) rs201734382 0.00070
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.3055+5G>A rs377031190 0.00038
NM_004260.4(RECQL4):c.2417G>A (p.Gly806Glu) rs762456224 0.00035
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile) rs200018416 0.00031
NM_004260.4(RECQL4):c.1159G>A (p.Gly387Arg) rs202043854 0.00024
NM_004260.4(RECQL4):c.1219G>A (p.Glu407Lys) rs117670586 0.00023
NM_004260.4(RECQL4):c.3013C>T (p.Arg1005Trp) rs368982201 0.00022
NM_004260.4(RECQL4):c.2351G>A (p.Arg784Gln) rs536096413 0.00020
NM_004260.4(RECQL4):c.1697T>C (p.Leu566Pro) rs201648505 0.00018
NM_004260.4(RECQL4):c.1684C>T (p.Arg562Trp) rs61759892 0.00016
NM_004260.4(RECQL4):c.1345A>C (p.Thr449Pro) rs535692036 0.00013
NM_004260.4(RECQL4):c.1064G>A (p.Arg355Gln) rs374743591 0.00010
NM_004260.4(RECQL4):c.1130A>T (p.Gln377Leu) rs944826681 0.00010
NM_004260.4(RECQL4):c.2297G>A (p.Arg766Gln) rs931761657 0.00009
NM_004260.4(RECQL4):c.2425G>A (p.Gly809Arg) rs769977498 0.00009
NM_004260.4(RECQL4):c.385C>T (p.Pro129Ser) rs201542692 0.00009
NM_004260.4(RECQL4):c.646G>A (p.Glu216Lys) rs201301365 0.00009
NM_004260.4(RECQL4):c.1151G>A (p.Arg384Gln) rs376045624 0.00008
NM_004260.4(RECQL4):c.2226G>T (p.Glu742Asp) rs200002105 0.00008
NM_004260.4(RECQL4):c.2251C>T (p.Arg751Trp) rs750304658 0.00008
NM_004260.4(RECQL4):c.1900G>A (p.Val634Met) rs747895651 0.00007
NM_004260.4(RECQL4):c.2252G>A (p.Arg751Gln) rs559066300 0.00007
NM_004260.4(RECQL4):c.2386G>A (p.Glu796Lys) rs746005466 0.00007
NM_004260.4(RECQL4):c.1043A>G (p.His348Arg) rs201763704 0.00006
NM_004260.4(RECQL4):c.1892G>A (p.Arg631His) rs771179943 0.00006
NM_004260.4(RECQL4):c.2687T>C (p.Val896Ala) rs373763805 0.00006
NM_004260.4(RECQL4):c.3112C>T (p.Arg1038Cys) rs763078132 0.00006
NM_004260.4(RECQL4):c.3358G>A (p.Glu1120Lys) rs776023102 0.00006
NM_004260.4(RECQL4):c.742C>T (p.Arg248Cys) rs540719285 0.00006
NM_004260.4(RECQL4):c.2144G>A (p.Arg715Gln) rs184775551 0.00005
NM_004260.4(RECQL4):c.2344G>A (p.Asp782Asn) rs758319706 0.00005
NM_004260.4(RECQL4):c.1561C>T (p.Arg521Trp) rs555407951 0.00004
NM_004260.4(RECQL4):c.1570C>T (p.Pro524Ser) rs374965803 0.00004
NM_004260.4(RECQL4):c.2129G>A (p.Arg710His) rs781121286 0.00004
NM_004260.4(RECQL4):c.2329G>T (p.Gly777Trp) rs377173936 0.00004
NM_004260.4(RECQL4):c.2761G>A (p.Glu921Lys) rs371890521 0.00004
NM_004260.4(RECQL4):c.1853G>A (p.Arg618Gln) rs776616498 0.00003
NM_004260.4(RECQL4):c.2587G>A (p.Glu863Lys) rs747237323 0.00003
NM_004260.4(RECQL4):c.3509C>T (p.Pro1170Leu) rs772265082 0.00003
NM_004260.4(RECQL4):c.3528G>A (p.Val1176=) rs763965257 0.00003
NM_004260.4(RECQL4):c.3532G>A (p.Gly1178Arg) rs776146178 0.00003
NM_004260.4(RECQL4):c.1460G>A (p.Arg487His) rs775200679 0.00002
NM_004260.4(RECQL4):c.1472G>A (p.Arg491Gln) rs777256889 0.00002
NM_004260.4(RECQL4):c.1867C>T (p.Arg623Cys) rs772515188 0.00002
NM_004260.4(RECQL4):c.2303T>C (p.Val768Ala) rs370863264 0.00002
NM_004260.4(RECQL4):c.2983T>A (p.Ser995Thr) rs373202723 0.00002
NM_004260.4(RECQL4):c.3428T>C (p.Ile1143Thr) rs759478327 0.00002
NM_004260.4(RECQL4):c.1885C>T (p.Arg629Trp) rs772074149 0.00001
NM_004260.4(RECQL4):c.1886G>A (p.Arg629Gln) rs761794554 0.00001
NM_004260.4(RECQL4):c.2120G>A (p.Cys707Tyr) rs1351785836 0.00001
NM_004260.4(RECQL4):c.2410C>T (p.Arg804Trp) rs753536598 0.00001
NM_004260.4(RECQL4):c.3113G>A (p.Arg1038His) rs374254271 0.00001
NM_004260.4(RECQL4):c.539G>A (p.Ser180Asn) rs1060501378 0.00001
NM_004260.4(RECQL4):c.758A>G (p.Gln253Arg) rs373588660 0.00001
NM_004260.4(RECQL4):c.1073T>G (p.Met358Arg) rs376652305
NM_004260.4(RECQL4):c.1291G>A (p.Glu431Lys) rs1828015944
NM_004260.4(RECQL4):c.1649C>T (p.Ala550Val) rs764297840
NM_004260.4(RECQL4):c.1939C>G (p.Arg647Gly) rs775127620
NM_004260.4(RECQL4):c.2099T>C (p.Leu700Pro) rs563222200
NM_004260.4(RECQL4):c.2148C>G (p.Ile716Met) rs772168426
NM_004260.4(RECQL4):c.2486G>A (p.Arg829His) rs375250269
NM_004260.4(RECQL4):c.3172C>G (p.Arg1058Gly) rs375297971
NM_004260.4(RECQL4):c.3496G>A (p.Gly1166Ser) rs779410033
NM_004260.4(RECQL4):c.3542G>A (p.Arg1181Gln) rs370069034
NM_004260.4(RECQL4):c.466A>T (p.Ser156Cys) rs1586826374

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