ClinVar Miner

List of variants in gene RECQL4 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.309G>A (p.Pro103=) rs4251688 0.00564
NM_004260.4(RECQL4):c.1395G>A (p.Thr465=) rs34948955 0.00557
NM_004260.4(RECQL4):c.3133G>A (p.Ala1045Thr) rs35348691 0.00390
NM_004260.4(RECQL4):c.3314G>A (p.Gly1105Asp) rs36078464 0.00371
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.1954G>A (p.Val652Met) rs61754061 0.00285
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.891C>T (p.Asp297=) rs34700133 0.00227
NM_004260.4(RECQL4):c.2817G>A (p.Ala939=) rs202045203 0.00203
NM_004260.4(RECQL4):c.615C>G (p.Pro205=) rs35639991 0.00159
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.2460C>T (p.Pro820=) rs202078917 0.00098
NM_004260.4(RECQL4):c.1621-8A>G rs373357384 0.00064
NM_004260.4(RECQL4):c.3600G>A (p.Thr1200=) rs35225938 0.00064
NM_004260.4(RECQL4):c.3009G>A (p.Val1003=) rs34919378 0.00062
NM_004260.4(RECQL4):c.286C>A (p.Arg96=) rs375568877 0.00043
NM_004260.4(RECQL4):c.1576C>T (p.Leu526Phe) rs200732690 0.00041
NM_004260.4(RECQL4):c.2724T>C (p.Leu908=) rs368908286 0.00034
NM_004260.4(RECQL4):c.2260C>T (p.Arg754Trp) rs193024188 0.00029
NM_004260.4(RECQL4):c.1779C>T (p.Ala593=) rs369939552 0.00026
NM_004260.4(RECQL4):c.3495C>T (p.His1165=) rs202083938 0.00026
NM_004260.4(RECQL4):c.3402T>C (p.Asp1134=) rs371037028 0.00025
NM_004260.4(RECQL4):c.2031C>T (p.Ser677=) rs749542193 0.00016
NM_004260.4(RECQL4):c.1548G>A (p.Ala516=) rs377022089 0.00008
NM_004260.4(RECQL4):c.2756-8G>T rs372723857 0.00007
NM_004260.4(RECQL4):c.1170T>C (p.Phe390=) rs768991485 0.00006
NM_004260.4(RECQL4):c.1284T>C (p.Val428=) rs766635144 0.00006
NM_004260.4(RECQL4):c.1869C>T (p.Arg623=) rs368736533 0.00006
NM_004260.4(RECQL4):c.2196T>A (p.Ser732=) rs373197205 0.00006
NM_004260.4(RECQL4):c.2499C>T (p.His833=) rs377593129 0.00006
NM_004260.4(RECQL4):c.3363C>T (p.Asp1121=) rs148752485 0.00005
NM_004260.4(RECQL4):c.2109T>C (p.Ile703=) rs759753484 0.00004
NM_004260.4(RECQL4):c.2799C>T (p.His933=) rs769613313 0.00004
NM_004260.4(RECQL4):c.3531C>T (p.Tyr1177=) rs139228543 0.00004
NM_004260.4(RECQL4):c.634C>T (p.Leu212=) rs377012693 0.00004
NM_004260.4(RECQL4):c.2952C>T (p.Ser984=) rs373784742 0.00002
NM_004260.4(RECQL4):c.1140G>A (p.Lys380=) rs1159732841 0.00001
NM_004260.4(RECQL4):c.2133G>A (p.Glu711=) rs757809740 0.00001
NM_004260.4(RECQL4):c.2518C>T (p.Leu840=) rs201106179 0.00001
NM_004260.4(RECQL4):c.3348G>A (p.Pro1116=) rs368712314 0.00001
NM_004260.4(RECQL4):c.1242C>T (p.Ala414=)
NM_004260.4(RECQL4):c.1494G>A (p.Thr498=) rs557281237
NM_004260.4(RECQL4):c.1568G>C (p.Ser523Thr) rs754735053
NM_004260.4(RECQL4):c.2112C>A (p.Ile704=) rs368140492
NM_004260.4(RECQL4):c.2148C>T (p.Ile716=) rs772168426
NM_004260.4(RECQL4):c.2397G>A (p.Val799=) rs1586802025
NM_004260.4(RECQL4):c.2547G>A (p.Val849=)
NM_004260.4(RECQL4):c.2557TGCACC[4] (p.853CT[4]) rs548804317
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004260.4(RECQL4):c.3219C>T (p.Thr1073=) rs769367312
NM_004260.4(RECQL4):c.564T>C (p.Pro188=)
NM_004260.4(RECQL4):c.816C>G (p.Pro272=)

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