ClinVar Miner

Variants in gene MTRR with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_002454.3(MTRR):c.*151A>G rs112465197 0.01706
NM_002454.3(MTRR):c.*49A>G rs142538539 0.01601
NM_002454.3(MTRR):c.*167A>G rs115253331 0.01048
NM_002454.3(MTRR):c.288C>T (p.Leu96=) rs35587995 0.00500
NM_002454.3(MTRR):c.1468A>G (p.Thr490Ala) rs41283145 0.00414
NM_002454.3(MTRR):c.1819G>A (p.Val607Ile) rs114259126 0.00366
NM_002454.3(MTRR):c.876C>T (p.Thr292=) rs144724549 0.00341
NM_002454.3(MTRR):c.210C>G (p.Arg70=) rs41282641 0.00303
NM_002454.3(MTRR):c.1326C>T (p.Leu442=) rs144781389 0.00274
NM_002454.3(MTRR):c.739C>T (p.Pro247Ser) rs114053717 0.00190
NM_002454.3(MTRR):c.177C>G (p.Thr59=) rs142098262 0.00147
NM_002454.3(MTRR):c.144C>T (p.Thr48=) rs138612190 0.00120
NM_002454.3(MTRR):c.1091_1093del (p.Cys364del) rs796052001

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