ClinVar Miner

List of variants in gene RECQL4 reported by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.3127T>C (p.Leu1043=) rs4925828 0.98841
NM_004260.4(RECQL4):c.274T>C (p.Ser92Pro) rs2721190 0.98532
NM_004260.4(RECQL4):c.801G>C (p.Glu267Asp) rs4244612 0.41942
NM_004260.4(RECQL4):c.3236+13C>T rs4244610 0.41215
NM_004260.4(RECQL4):c.1258+18G>A rs4251689 0.38613
NM_004260.4(RECQL4):c.3393+8C>T rs756627 0.37589
NM_004260.4(RECQL4):c.1621-15C>T rs4244611 0.37577
NM_004260.4(RECQL4):c.3014G>A (p.Arg1005Gln) rs4251691 0.36660
NM_004260.4(RECQL4):c.738C>T (p.Ser246=) rs4244613 0.36043
NM_004260.4(RECQL4):c.1772C>T (p.Pro591Leu) rs2721191 0.02663
NM_004260.4(RECQL4):c.2395G>A (p.Val799Met) rs34293591 0.01793
NM_004260.4(RECQL4):c.2238G>A (p.Ala746=) rs35215952 0.01004
NM_004260.4(RECQL4):c.1879-15C>A rs35126141 0.00929
NM_004260.4(RECQL4):c.2636C>A (p.Pro879His) rs137975310 0.00913
NM_004260.4(RECQL4):c.1564C>T (p.Arg522Cys) rs35407712 0.00877
NM_004260.4(RECQL4):c.275C>T (p.Ser92Phe) rs200516441 0.00876
NM_004260.4(RECQL4):c.2415C>T (p.Ala805=) rs34735741 0.00600
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.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.2377C>T (p.Pro793Ser) rs35098923 0.00307
NM_004260.4(RECQL4):c.3058G>A (p.Val1020Met) rs114149451 0.00287
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.3392G>A (p.Arg1131Lys) rs201369291 0.00274
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.565G>A (p.Gly189Ser) rs34371341 0.00204
NM_004260.4(RECQL4):c.615C>G (p.Pro205=) rs35639991 0.00159
NM_004260.4(RECQL4):c.308C>T (p.Pro103Leu) rs199543866 0.00082
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.2543G>A (p.Arg848His) rs368989729 0.00049
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile) rs200018416 0.00031
NM_004260.4(RECQL4):c.1872C>T (p.Val624=) rs201815449 0.00026
NM_004260.4(RECQL4):c.1159G>A (p.Gly387Arg) rs202043854 0.00024
NM_004260.4(RECQL4):c.2953G>A (p.Val985Met) rs200629599 0.00024
NM_004260.4(RECQL4):c.2545G>A (p.Val849Met) rs201661055 0.00019
NM_004260.4(RECQL4):c.1391-4G>T rs190388213 0.00016
NM_004260.4(RECQL4):c.1685G>A (p.Arg562Gln) rs375562152 0.00016
NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs) rs746636748 0.00013
NM_004260.4(RECQL4):c.2728G>A (p.Val910Ile) rs374225917 0.00013
NM_004260.4(RECQL4):c.2464-1G>C rs398124117 0.00012
NM_004260.4(RECQL4):c.2538A>G (p.Val846=) rs746303718 0.00009
NM_004260.4(RECQL4):c.1151G>A (p.Arg384Gln) rs376045624 0.00008
NM_004260.4(RECQL4):c.862G>A (p.Gly288Arg) rs199706417 0.00006
NM_004260.4(RECQL4):c.755C>T (p.Pro252Leu) rs199773279 0.00005
NM_004260.4(RECQL4):c.1570C>T (p.Pro524Ser) rs374965803 0.00004
NM_004260.4(RECQL4):c.1789C>T (p.Pro597Ser) rs764839023 0.00004
NM_004260.4(RECQL4):c.2476C>T (p.Arg826Ter) rs386833851 0.00004
NM_004260.4(RECQL4):c.431G>A (p.Gly144Asp) rs758010588 0.00004
NM_004260.4(RECQL4):c.1259-1G>A rs372380880 0.00003
NM_004260.4(RECQL4):c.1124G>A (p.Arg375His) rs398124115 0.00002
NM_004260.4(RECQL4):c.1936C>T (p.Arg646Cys) rs398124116 0.00002
NM_004260.4(RECQL4):c.2416G>A (p.Gly806Arg) rs767102398 0.00002
NM_004260.4(RECQL4):c.836G>A (p.Ser279Asn) rs780327528 0.00002
NM_004260.4(RECQL4):c.969C>T (p.Ser323=) rs745658597 0.00002
NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu) rs386833844 0.00001
NM_004260.4(RECQL4):c.2585C>T (p.Ser862Leu) rs781636798 0.00001
NM_004260.4(RECQL4):c.2976G>C (p.Leu992=) rs775795557 0.00001
NM_004260.4(RECQL4):c.3246C>T (p.Phe1082=) rs748604051 0.00001
NM_004260.4(RECQL4):c.1568del (p.Ser523fs) rs886043102
NM_004260.4(RECQL4):c.1573T>C (p.Cys525Arg) rs886043101
NM_004260.4(RECQL4):c.1704+1G>A rs760363252
NM_004260.4(RECQL4):c.212A>G (p.Glu71Gly) rs34642881
NM_004260.4(RECQL4):c.213+6del rs535285068
NM_004260.4(RECQL4):c.2557TGCACC[4] (p.853CT[4]) rs548804317
NM_004260.4(RECQL4):c.2752G>T (p.Glu918Ter) rs762028333
NM_004260.4(RECQL4):c.3025C>T (p.Gln1009Ter) rs1564790457
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004260.4(RECQL4):c.3128T>A (p.Leu1043Ter) rs398124118
NM_004260.4(RECQL4):c.3424G>C (p.Asp1142His) rs61755067
NM_004260.4(RECQL4):c.3624C>A (p.Arg1208=) rs56341125

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