ClinVar Miner

List of variants in gene RECQL4 studied for cancer

Included ClinVar conditions (475):
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Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.1573del (p.Cys525fs) rs386833845 0.00033
NM_004260.4(RECQL4):c.2545G>A (p.Val849Met) rs201661055 0.00019
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.646G>A (p.Glu216Lys) rs201301365 0.00009
NM_004260.4(RECQL4):c.2069C>T (p.Thr690Met) rs369950284 0.00008
NM_004260.4(RECQL4):c.2144G>A (p.Arg715Gln) rs184775551 0.00005
NM_004260.4(RECQL4):c.215C>T (p.Ala72Val) rs763453097 0.00005
NM_004260.4(RECQL4):c.3347C>T (p.Pro1116Leu) rs368671582 0.00005
NM_004260.4(RECQL4):c.1060G>A (p.Val354Ile) rs551940973 0.00004
NM_004260.4(RECQL4):c.1321C>T (p.Pro441Ser) rs557142414 0.00004
NM_004260.4(RECQL4):c.2761G>A (p.Glu921Lys) rs371890521 0.00004
NM_004260.4(RECQL4):c.3218C>T (p.Thr1073Ile) rs775225569 0.00004
NM_004260.4(RECQL4):c.1717C>T (p.Gln573Ter) rs1483085748 0.00003
NM_004260.4(RECQL4):c.3184C>T (p.Arg1062Trp) rs199658221 0.00003
NM_004260.4(RECQL4):c.3256G>A (p.Gly1086Arg) rs587778646 0.00003
NM_004260.4(RECQL4):c.1780G>A (p.Ala594Thr) rs376364416 0.00002
NM_004260.4(RECQL4):c.280C>T (p.Pro94Ser) rs1359100897 0.00002
NM_004260.4(RECQL4):c.1096G>C (p.Gly366Arg) rs763114749 0.00001
NM_004260.4(RECQL4):c.2312C>T (p.Thr771Met) rs770327474 0.00001
NM_004260.4(RECQL4):c.2585C>T (p.Ser862Leu) rs781636798 0.00001
NM_004260.4(RECQL4):c.2704C>T (p.Arg902Trp) rs761231404 0.00001
NM_004260.4(RECQL4):c.2830C>T (p.His944Tyr) rs527454830 0.00001
NM_004260.4(RECQL4):c.626G>A (p.Arg209Lys) rs753018522 0.00001
NM_004260.4(RECQL4):c.682C>T (p.Leu228Phe) rs1316434470 0.00001
NM_004260.4(RECQL4):c.988G>A (p.Ala330Thr) rs757933716 0.00001
NM_004260.4(RECQL4):c.1208G>C (p.Cys403Ser)
NM_004260.4(RECQL4):c.1553T>C (p.Leu518Pro) rs2130703525
NM_004260.4(RECQL4):c.3136G>A (p.Glu1046Lys) rs771349728
NM_004260.4(RECQL4):c.3284A>G (p.Glu1095Gly)
NM_004260.4(RECQL4):c.3465C>G (p.Phe1155Leu)

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