ClinVar Miner

List of variants in gene combination RTEL1, RTEL1-TNFRSF6B studied for Dyskeratosis congenita, autosomal dominant 1

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Gene type:
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001283009.2(RTEL1):c.1348+6G>A rs371358328 0.00083
NM_001283009.2(RTEL1):c.3054C>G (p.Pro1018=) rs147894642 0.00062
NM_001283009.2(RTEL1):c.973C>T (p.Leu325=) rs142739953 0.00051
NM_001283009.2(RTEL1):c.959-10C>T rs202035834 0.00044
NM_001283009.2(RTEL1):c.245C>T (p.Pro82Leu) rs143461704 0.00042
NM_001283009.2(RTEL1):c.2652+4C>T rs374540895 0.00042
NM_001283009.2(RTEL1):c.612C>T (p.His204=) rs142711955 0.00040
NM_001283009.2(RTEL1):c.3129A>G (p.Pro1043=) rs199578945 0.00022
NM_001283009.2(RTEL1):c.2352C>T (p.Phe784=) rs140564753 0.00020
NM_001283009.2(RTEL1):c.1349-9G>A rs772899702 0.00019
NM_001283009.2(RTEL1):c.396-18G>A rs200598131 0.00019
NM_001283009.2(RTEL1):c.3505T>C (p.Ser1169Pro) rs143248833 0.00017
NM_001283009.2(RTEL1):c.1626G>A (p.Gly542=) rs140629792 0.00009
NM_001283009.2(RTEL1):c.2508C>T (p.Ala836=) rs147245368 0.00009
NM_001283009.2(RTEL1):c.2877C>A (p.His959Gln) rs373996455 0.00008
NM_001283009.2(RTEL1):c.2256C>T (p.Ala752=) rs546705390 0.00005
NM_001283009.2(RTEL1):c.640A>T (p.Asn214Tyr) rs746411863 0.00005
NM_001283009.2(RTEL1):c.2061G>A (p.Ala687=) rs201842671 0.00004
NM_001283009.2(RTEL1):c.2151T>C (p.Phe717=) rs751146876 0.00004
NM_001283009.2(RTEL1):c.2624G>A (p.Arg875Lys) rs200565373 0.00004
NM_001283009.2(RTEL1):c.987C>T (p.Ile329=) rs763882822 0.00004
NM_001283009.2(RTEL1):c.3465G>A (p.Val1155=) rs779999962 0.00001
NM_001283009.2(RTEL1):c.3534G>A (p.Gln1178=) rs781484810 0.00001
NM_001283009.2(RTEL1):c.2832G>A (p.Lys944=) rs147040733
NM_001283009.2(RTEL1):c.594C>G (p.Val198=) rs774564498
NM_001283009.2(RTEL1):c.675G>T (p.Pro225=) rs762854518
NM_001283009.2(RTEL1):c.898A>T (p.Ser300Cys) rs1601119963

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