ClinVar Miner

List of variants in gene RECQL4 reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.309G>A (p.Pro103=) rs4251688 0.00554
NM_004260.4(RECQL4):c.3314G>A (p.Gly1105Asp) rs36078464 0.00371
NM_004260.4(RECQL4):c.1704+9C>T rs35876881 0.00365
NM_004260.4(RECQL4):c.543G>A (p.Gln181=) rs34159914 0.00342
NM_004260.4(RECQL4):c.3337G>C (p.Gly1113Arg) rs35101495 0.00313
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met) rs61754061 0.00285
NM_004260.4(RECQL4):c.3435G>C (p.Gln1145His) rs61755066 0.00256
NM_004260.4(RECQL4):c.2463+6C>T rs35029361 0.00229
NM_004260.4(RECQL4):c.2817G>A (p.Ala939=) rs202045203 0.00198
NM_004260.4(RECQL4):c.716C>T (p.Ala239Val) rs146709578 0.00129
NM_004260.4(RECQL4):c.3443C>T (p.Ser1148Phe) rs35346077 0.00123
NM_004260.4(RECQL4):c.3010C>T (p.Arg1004Trp) rs36023964 0.00112
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.1573del (p.Cys525fs) rs386833845 0.00033
NM_004260.4(RECQL4):c.2260C>T (p.Arg754Trp) rs193024188 0.00027
NM_004260.4(RECQL4):c.3495C>T (p.His1165=) rs202083938 0.00026
NM_004260.4(RECQL4):c.1853G>A (p.Arg618Gln) rs776616498 0.00003
NM_004260.4(RECQL4):c.2585C>T (p.Ser862Leu) rs781636798 0.00001
NM_004260.4(RECQL4):c.2086C>A (p.Arg696Ser) rs531970883
NM_004260.4(RECQL4):c.213+6del rs535285068
NM_004260.4(RECQL4):c.2547_2548del (p.Phe850fs) rs778141083
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647

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