ClinVar Miner

List of variants in gene RECQL4 reported as likely benign by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.3133G>A (p.Ala1045Thr) rs35348691 0.00390
NM_004260.4(RECQL4):c.1704+9C>T rs35876881 0.00365
NM_004260.4(RECQL4):c.543G>A (p.Gln181=) rs34159914 0.00353
NM_004260.4(RECQL4):c.3337G>C (p.Gly1113Arg) rs35101495 0.00313
NM_004260.4(RECQL4):c.3313G>A (p.Gly1105Ser) rs34915097 0.00296
NM_004260.4(RECQL4):c.3609C>T (p.Leu1203=) rs201384843 0.00276
NM_004260.4(RECQL4):c.3435G>C (p.Gln1145His) rs61755066 0.00261
NM_004260.4(RECQL4):c.1390+3G>A rs148912524 0.00246
NM_004260.4(RECQL4):c.2817G>A (p.Ala939=) rs202045203 0.00203
NM_004260.4(RECQL4):c.2223C>T (p.Ala741=) rs34271972 0.00198
NM_004260.4(RECQL4):c.716C>T (p.Ala239Val) rs146709578 0.00129
NM_004260.4(RECQL4):c.3443C>T (p.Ser1148Phe) rs35346077 0.00119
NM_004260.4(RECQL4):c.1398G>A (p.Pro466=) rs145615931 0.00116
NM_004260.4(RECQL4):c.514C>T (p.Leu172Phe) rs188859497 0.00102
NM_004260.4(RECQL4):c.2460C>T (p.Pro820=) rs202078917 0.00098
NM_004260.4(RECQL4):c.1621-8A>G rs373357384 0.00064
NM_004260.4(RECQL4):c.2724T>C (p.Leu908=) rs368908286 0.00034
NM_004260.4(RECQL4):c.1872C>T (p.Val624=) rs201815449 0.00026
NM_004260.4(RECQL4):c.681C>T (p.Val227=) rs567959067 0.00009
NM_004260.4(RECQL4):c.3375C>T (p.Pro1125=) rs749208991 0.00002
NM_004260.4(RECQL4):c.2464-8C>T rs373671393 0.00001
NM_004260.4(RECQL4):c.604C>T (p.Leu202=) rs61754062 0.00001
NM_004260.4(RECQL4):c.1494G>A (p.Thr498=) rs557281237
NM_004260.4(RECQL4):c.2557TGCACC[4] (p.853CT[4]) rs548804317
NM_004260.4(RECQL4):c.3624C>A (p.Arg1208=) rs56341125

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