ClinVar Miner

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

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NM_001283009.1(RTEL1):c.3665G>T (p.Gly1222Val) rs1177347580
NM_001283009.1(RTEL1):c.3786C>T (p.Phe1262=) rs1555814752
NM_001283009.1(RTEL1):c.3801C>T (p.Ala1267=) rs368388044
NM_016434.3(RTEL1):c.1002G>T (p.Leu334=) rs1555902826
NM_016434.3(RTEL1):c.1074G>A (p.Thr358=) rs375256851
NM_016434.3(RTEL1):c.120G>A (p.Leu40=) rs1555899465
NM_016434.3(RTEL1):c.1236A>G (p.Pro412=) rs914576910
NM_016434.3(RTEL1):c.1349-9G>A rs772899702
NM_016434.3(RTEL1):c.1595+9C>T rs370145267
NM_016434.3(RTEL1):c.1650C>T (p.Arg550=) rs147825631
NM_016434.3(RTEL1):c.1800+8C>T rs765664650
NM_016434.3(RTEL1):c.2145C>T (p.Phe715=) rs762607146
NM_016434.3(RTEL1):c.2325C>T (p.Ser775=) rs138950475
NM_016434.3(RTEL1):c.2358C>T (p.Thr786=) rs202106904
NM_016434.3(RTEL1):c.2427C>T (p.Ala809=) rs767770069
NM_016434.3(RTEL1):c.2661C>A (p.Pro887=) rs3848671
NM_016434.3(RTEL1):c.2678C>T (p.Thr893Met) rs141717966
NM_016434.3(RTEL1):c.2796C>T (p.Ala932=) rs143740470
NM_016434.3(RTEL1):c.2851+52T>C rs370125588
NM_016434.3(RTEL1):c.2975C>T (p.Pro992Leu) rs143967591
NM_016434.3(RTEL1):c.3006G>A (p.Pro1002=) rs201351158
NM_016434.3(RTEL1):c.3049G>A (p.Asp1017Asn) rs61736617
NM_016434.3(RTEL1):c.3219C>T (p.Ser1073=) rs376151757
NM_016434.3(RTEL1):c.3615C>T (p.Ser1205=) rs797045923
NM_016434.3(RTEL1):c.3630C>T (p.His1210=) rs564198378
NM_016434.3(RTEL1):c.3653-120C>T rs373109673
NM_016434.3(RTEL1):c.396-79C>T rs776396450
NM_016434.3(RTEL1):c.959T>C (p.Met320Thr) rs143550996
NM_016434.3(RTEL1):c.973C>T (p.Leu325=) rs142739953
NM_032957.4(RTEL1):c.431C>T (p.Thr144Ile) rs41297642

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