ClinVar Miner

List of variants in gene RECQL4 reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NM_004260.3(RECQL4):c.1390+3G>A rs148912524
NM_004260.3(RECQL4):c.1391-4G>T rs190388213
NM_004260.3(RECQL4):c.1395G>A (p.Thr465=) rs34948955
NM_004260.3(RECQL4):c.2031C>T (p.Ser677=) rs749542193
NM_004260.3(RECQL4):c.2499C>T (p.His833=) rs377593129
NM_004260.3(RECQL4):c.2755+1G>A rs373130543
NM_004260.3(RECQL4):c.2817G>A (p.Ala939=) rs202045203
NM_004260.3(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004260.3(RECQL4):c.3072del (p.Val1026fs) rs386833852
NM_004260.3(RECQL4):c.309G>A (p.Pro103=) rs4251688
NM_004260.3(RECQL4):c.3314G>A (p.Gly1105Asp) rs36078464
NM_004260.3(RECQL4):c.3317G>A (p.Arg1106His) rs34236392
NM_004260.3(RECQL4):c.3431G>A (p.Arg1144His) rs746892308
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.359_374del (p.Gly120Alafs) rs1554903709
NM_004260.3(RECQL4):c.3609C>T (p.Leu1203=) rs201384843
NM_004260.3(RECQL4):c.3622C>T (p.Arg1208Cys) rs41555416
NM_004260.3(RECQL4):c.543G>A (p.Gln181=) rs34159914
NM_004260.3(RECQL4):c.862G>A (p.Gly288Arg) rs199706417
NM_004260.3(RECQL4):c.929C>T (p.Pro310Leu) rs368504960
NM_004260.4(RECQL4):c.1071C>T (p.Asn357=) rs747857375
NM_004260.4(RECQL4):c.1626T>C (p.Ser542=) rs754134346
NM_004260.4(RECQL4):c.16G>C (p.Asp6His) rs1009265867
NM_004260.4(RECQL4):c.419del (p.Pro140fs) rs1406864413
NM_004260.4(RECQL4):c.930C>T (p.Pro310=) rs751163976

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