ClinVar Miner

List of variants in gene combination RTEL1, RTEL1-TNFRSF6B reported as benign for anemia (disease)

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NM_001283009.1(RTEL1):c.3692C>T (p.Thr1231Met) rs144477693
NM_001283009.1(RTEL1):c.3693G>A (p.Thr1231=) rs181080831
NM_016434.3(RTEL1):c.1017C>T (p.Ser339=) rs35877957
NM_016434.3(RTEL1):c.103-6G>A rs57695352
NM_016434.3(RTEL1):c.1192-9del rs200008996
NM_016434.3(RTEL1):c.1260C>T (p.Ser420=) rs188479221
NM_016434.3(RTEL1):c.1482-6G>A rs76364377
NM_016434.3(RTEL1):c.1548C>T (p.Val516=) rs116057134
NM_016434.3(RTEL1):c.1596-9C>T rs200803729
NM_016434.3(RTEL1):c.1727G>A (p.Arg576His) rs115423936
NM_016434.3(RTEL1):c.1761G>A (p.Pro587=) rs116900568
NM_016434.3(RTEL1):c.1830C>T (p.Ala610=) rs140738232
NM_016434.3(RTEL1):c.1953C>T (p.Arg651=) rs79210260
NM_016434.3(RTEL1):c.2051G>A (p.Arg684Gln) rs35640778
NM_016434.3(RTEL1):c.2310_2312AGA[1] (p.Glu771del) rs558133631
NM_016434.3(RTEL1):c.2414-6C>T rs376868750
NM_016434.3(RTEL1):c.2444G>T (p.Ser815Ile) rs150461578
NM_016434.3(RTEL1):c.2546G>A (p.Gly849Asp) rs190887884
NM_016434.3(RTEL1):c.2661C>T (p.Pro887=) rs3848671
NM_016434.3(RTEL1):c.2775C>T (p.Ser925=) rs12480346
NM_016434.3(RTEL1):c.2785G>A (p.Ala929Thr) rs61736615
NM_016434.3(RTEL1):c.2787C>T (p.Ala929=) rs115030322
NM_016434.3(RTEL1):c.2823G>C (p.Glu941Asp) rs61736614
NM_016434.3(RTEL1):c.2898G>C (p.Glu966Asp) rs115464632
NM_016434.3(RTEL1):c.301+7C>T rs200648296
NM_016434.3(RTEL1):c.3056A>G (p.Gln1019Arg) rs116053476
NM_016434.3(RTEL1):c.3101C>A (p.Pro1034His) rs115610405
NM_016434.3(RTEL1):c.3175G>A (p.Ala1059Thr) rs115303435
NM_016434.3(RTEL1):c.3412C>A (p.Arg1138=) rs6062495
NM_016434.3(RTEL1):c.3423G>A (p.Pro1141=) rs41306796
NM_016434.3(RTEL1):c.3653-5C>G rs141522376
NM_016434.3(RTEL1):c.786G>A (p.Ser262=) rs6011020
NM_016434.3(RTEL1):c.879T>C (p.Gly293=) rs6010616
NM_016434.3(RTEL1):c.936G>A (p.Leu312=) rs41302954
NM_016434.3(RTEL1):c.978G>A (p.Glu326=) rs41310197

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