ClinVar Miner

List of variants in gene RECQL4 studied for not specified

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Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP
NM_004260.3(RECQL4):c.1028C>T (p.Pro343Leu) rs549381989
NM_004260.3(RECQL4):c.1072A>G (p.Met358Val) rs371503929
NM_004260.3(RECQL4):c.1090G>A (p.Val364Met) rs144637135
NM_004260.3(RECQL4):c.1115G>C (p.Arg372Thr) rs200097701
NM_004260.3(RECQL4):c.1151G>A (p.Arg384Gln) rs376045624
NM_004260.3(RECQL4):c.1237_1238delinsAG (p.Ala413Arg) rs587778652
NM_004260.3(RECQL4):c.1258+18G>A rs4251689
NM_004260.3(RECQL4):c.1258+6A>T rs34437789
NM_004260.3(RECQL4):c.132A>G (p.Glu44=) rs2306386
NM_004260.3(RECQL4):c.1390+3G>A rs148912524
NM_004260.3(RECQL4):c.1395G>A (p.Thr465=) rs34948955
NM_004260.3(RECQL4):c.1396C>T (p.Pro466Ser) rs562809072
NM_004260.3(RECQL4):c.1415C>T (p.Ala472Val) rs587778653
NM_004260.3(RECQL4):c.1417C>G (p.Leu473Val) rs587778654
NM_004260.3(RECQL4):c.148C>G (p.Arg50Gly) rs1325079305
NM_004260.3(RECQL4):c.1519G>A (p.Gly507Ser) rs587778655
NM_004260.3(RECQL4):c.1564C>T (p.Arg522Cys) rs35407712
NM_004260.3(RECQL4):c.1565G>A (p.Arg522His) rs35842750
NM_004260.3(RECQL4):c.1568G>C (p.Ser523Thr) rs754735053
NM_004260.3(RECQL4):c.1576C>T (p.Leu526Phe) rs200732690
NM_004260.3(RECQL4):c.161A>G (p.Gln54Arg) rs35198096
NM_004260.3(RECQL4):c.1621-15C>T rs4244611
NM_004260.3(RECQL4):c.1621-8A>G rs373357384
NM_004260.3(RECQL4):c.1625C>T (p.Ser542Phe) rs369852601
NM_004260.3(RECQL4):c.1649C>T (p.Ala550Val) rs764297840
NM_004260.3(RECQL4):c.1652C>T (p.Ala551Val) rs587778643
NM_004260.3(RECQL4):c.1684C>T (p.Arg562Trp) rs61759892
NM_004260.3(RECQL4):c.1697T>C (p.Leu566Pro) rs201648505
NM_004260.3(RECQL4):c.1704+9C>T rs35876881
NM_004260.3(RECQL4):c.1708C>T (p.Arg570Trp) rs373178405
NM_004260.3(RECQL4):c.171C>T (p.Gly57=) rs758179747
NM_004260.3(RECQL4):c.1726G>A (p.Val576Met) rs570331496
NM_004260.3(RECQL4):c.1772C>T (p.Pro591Leu) rs2721191
NM_004260.3(RECQL4):c.1868G>A (p.Arg623His) rs201734382
NM_004260.3(RECQL4):c.1879-15C>A rs35126141
NM_004260.3(RECQL4):c.1954G>A (p.Val652Met) rs61754061
NM_004260.3(RECQL4):c.2086C>A (p.Arg696Ser) rs531970883
NM_004260.3(RECQL4):c.212A>G (p.Glu71Gly) rs34642881
NM_004260.3(RECQL4):c.2131G>A (p.Glu711Lys) rs371818842
NM_004260.3(RECQL4):c.2206G>A (p.Ala736Thr) rs864309583
NM_004260.3(RECQL4):c.2238G>A (p.Ala746=) rs35215952
NM_004260.3(RECQL4):c.2377C>T (p.Pro793Ser) rs35098923
NM_004260.3(RECQL4):c.2385C>G (p.Phe795Leu) rs587778644
NM_004260.3(RECQL4):c.2395G>A (p.Val799Met) rs34293591
NM_004260.3(RECQL4):c.2415C>T (p.Ala805=) rs34735741
NM_004260.3(RECQL4):c.2420G>A (p.Arg807His) rs571684398
NM_004260.3(RECQL4):c.2467G>A (p.Glu823Lys) rs368611522
NM_004260.3(RECQL4):c.2557_2562TGCACC[2] (p.853_854CT[2]) rs548804317
NM_004260.3(RECQL4):c.2557_2562TGCACC[4] (p.853_854CT[4]) rs548804317
NM_004260.3(RECQL4):c.2636C>A (p.Pro879His) rs137975310
NM_004260.3(RECQL4):c.2705G>A (p.Arg902Gln) rs372205013
NM_004260.3(RECQL4):c.274= (p.Pro92=) rs2721190
NM_004260.3(RECQL4):c.275C>T (p.Pro92Leu) rs200516441
NM_004260.3(RECQL4):c.2935G>A (p.Gly979Arg) rs587778645
NM_004260.3(RECQL4):c.2953G>A (p.Val985Met) rs200629599
NM_004260.3(RECQL4):c.3014G>A (p.Arg1005Gln) rs4251691
NM_004260.3(RECQL4):c.3058G>A (p.Val1020Met) rs114149451
NM_004260.3(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004260.3(RECQL4):c.307C>T (p.Pro103Ser) rs587778650
NM_004260.3(RECQL4):c.3127= (p.Leu1043=) rs4925828
NM_004260.3(RECQL4):c.3133G>A (p.Ala1045Thr) rs35348691
NM_004260.3(RECQL4):c.3172C>G (p.Arg1058Gly) rs375297971
NM_004260.3(RECQL4):c.3184C>T (p.Arg1062Trp) rs199658221
NM_004260.3(RECQL4):c.3236+13C>T rs4244610
NM_004260.3(RECQL4):c.3249C>T (p.Pro1083=) rs886038539
NM_004260.3(RECQL4):c.3256G>A (p.Gly1086Arg) rs587778646
NM_004260.3(RECQL4):c.3313G>A (p.Gly1105Ser) rs34915097
NM_004260.3(RECQL4):c.3314G>A (p.Gly1105Asp) rs36078464
NM_004260.3(RECQL4):c.3337G>C (p.Gly1113Arg) rs35101495
NM_004260.3(RECQL4):c.3392G>A (p.Arg1131Lys) rs201369291
NM_004260.3(RECQL4):c.3393+8C>T rs756627
NM_004260.3(RECQL4):c.3393+9A>G rs4251692
NM_004260.3(RECQL4):c.3394-11T>C rs370677156
NM_004260.3(RECQL4):c.3421T>C (p.Cys1141Arg) rs587778647
NM_004260.3(RECQL4):c.3435G>C (p.Gln1145His) rs61755066
NM_004260.3(RECQL4):c.3443C>T (p.Ser1148Phe) rs35346077
NM_004260.3(RECQL4):c.3521C>T (p.Ala1174Val) rs587778648
NM_004260.3(RECQL4):c.3609C>T (p.Leu1203=) rs201384843
NM_004260.3(RECQL4):c.410C>T (p.Ala137Val) rs527934999
NM_004260.3(RECQL4):c.465C>G (p.Val155=) rs116137512
NM_004260.3(RECQL4):c.543G>A (p.Gln181=) rs34159914
NM_004260.3(RECQL4):c.565G>A (p.Gly189Ser) rs34371341
NM_004260.3(RECQL4):c.615C>G (p.Pro205=) rs35639991
NM_004260.3(RECQL4):c.712G>A (p.Glu238Lys) rs587778651
NM_004260.3(RECQL4):c.716C>T (p.Ala239Val) rs146709578
NM_004260.3(RECQL4):c.738C>T (p.Ser246=) rs4244613
NM_004260.3(RECQL4):c.755C>T (p.Pro252Leu) rs199773279
NM_004260.3(RECQL4):c.801G>C (p.Glu267Asp) rs4244612
NM_004260.3(RECQL4):c.85-13G>T rs568000575
NM_004260.3(RECQL4):c.891C>T (p.Asp297=) rs34700133
NM_004260.3(RECQL4):c.929C>T (p.Pro310Leu) rs368504960
NM_004260.3(RECQL4):c.930C>G (p.Pro310=) rs751163976

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