ClinVar Miner

List of variants in gene combination RTEL1, RTEL1-TNFRSF6B reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001283009.2(RTEL1):c.1205T>C (p.Val402Ala) rs137956338 0.00046
NM_001283009.2(RTEL1):c.245C>T (p.Pro82Leu) rs143461704 0.00042
NM_001283009.2(RTEL1):c.2965C>T (p.Arg989Trp) rs139221232 0.00030
NM_001283009.2(RTEL1):c.2470C>T (p.Pro824Ser) rs138188555 0.00027
NM_001283009.2(RTEL1):c.538+3A>G rs201706459 0.00024
NM_001283009.2(RTEL1):c.3422C>T (p.Pro1141Leu) rs201682415 0.00022
NM_001283009.2(RTEL1):c.334G>A (p.Ala112Thr) rs151214675 0.00019
NM_001283009.2(RTEL1):c.860C>T (p.Thr287Ile) rs561054389 0.00015
NM_001283009.2(RTEL1):c.2987C>A (p.Pro996His) rs373210484 0.00011
NM_001283009.2(RTEL1):c.2877C>A (p.His959Gln) rs373996455 0.00008
NM_001283009.2(RTEL1):c.2903G>C (p.Cys968Ser) rs375503989 0.00006
NM_001283009.2(RTEL1):c.2275C>G (p.Pro759Ala) rs775121139 0.00005
NM_001283009.2(RTEL1):c.1004C>G (p.Pro335Arg) rs750272281 0.00004
NM_001283009.2(RTEL1):c.2579C>T (p.Ser860Phe) rs772872062 0.00004
NM_001283009.2(RTEL1):c.1963C>T (p.Arg655Trp) rs764349649 0.00003
NM_001283009.2(RTEL1):c.2306G>A (p.Arg769His) rs369014080 0.00003
NM_001283009.2(RTEL1):c.1266+3A>G rs889856101 0.00002
NM_001283009.2(RTEL1):c.1393C>T (p.His465Tyr) rs142928306 0.00002
NM_001283009.2(RTEL1):c.2414-14G>A rs770111225 0.00002
NM_001283009.2(RTEL1):c.970C>T (p.Arg324Cys) rs771452777 0.00002
NM_001283009.2(RTEL1):c.2866G>C (p.Val956Leu) rs942820151 0.00001
NM_001283009.2(RTEL1):c.1396G>A (p.Glu466Lys) rs1219409480
NM_001283009.2(RTEL1):c.2233G>A (p.Val745Met) rs398123049
NM_001283009.2(RTEL1):c.2980C>G (p.Leu994Val) rs2145449535
NM_001283009.2(RTEL1):c.3528G>C (p.Lys1176Asn) rs367598119

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