ClinVar Miner

List of variants in gene RECQL4 reported as benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP
NM_004260.3(RECQL4):c.1258+18G>A rs4251689
NM_004260.3(RECQL4):c.132A>G (p.Glu44=) rs2306386
NM_004260.3(RECQL4):c.1395G>A (p.Thr465=) rs34948955
NM_004260.3(RECQL4):c.1564C>T (p.Arg522Cys) rs35407712
NM_004260.3(RECQL4):c.161A>G (p.Gln54Arg) rs35198096
NM_004260.3(RECQL4):c.1621-15C>T rs4244611
NM_004260.3(RECQL4):c.1772C>T (p.Pro591Leu) rs2721191
NM_004260.3(RECQL4):c.1879-15C>A rs35126141
NM_004260.3(RECQL4):c.1954G>A (p.Val652Met) rs61754061
NM_004260.3(RECQL4):c.212A>G (p.Glu71Gly) rs34642881
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.2395G>A (p.Val799Met) rs34293591
NM_004260.3(RECQL4):c.2415C>T (p.Ala805=) rs34735741
NM_004260.3(RECQL4):c.2636C>A (p.Pro879His) rs137975310
NM_004260.3(RECQL4):c.274= (p.Pro92=) rs2721190
NM_004260.3(RECQL4):c.275C>T (p.Pro92Leu) rs200516441
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.3127= (p.Leu1043=) rs4925828
NM_004260.3(RECQL4):c.3133G>A (p.Ala1045Thr) rs35348691
NM_004260.3(RECQL4):c.3236+13C>T rs4244610
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.3435G>C (p.Gln1145His) rs61755066
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.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.891C>T (p.Asp297=) rs34700133

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