ClinVar Miner

List of variants reported as pathogenic for Methylcobalamin deficiency type cblG

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu) rs121913578 0.00009
NM_000254.3(MTR):c.1228G>C (p.Ala410Pro) rs121913582 0.00003
NM_000254.3(MTR):c.2404C>T (p.Arg802Ter) rs138695265 0.00003
NM_000254.3(MTR):c.2971C>T (p.Arg991Ter) rs536238004 0.00003
NM_000254.3(MTR):c.1753C>T (p.Arg585Ter) rs121913580 0.00001
NM_000254.3(MTR):c.2020C>T (p.Arg674Cys) rs150058137 0.00001
NM_000254.3(MTR):c.2101del (p.Tyr701fs) rs762727293 0.00001
NM_000254.3(MTR):c.2474-1G>C rs757963570 0.00001
NM_000254.3(MTR):c.340-166A>G rs1661117141 0.00001
NM_000254.3(MTR):c.3439C>T (p.Arg1147Ter) rs201718371 0.00001
MTR, IVS6AS, G-A, LYS203
NC_000001.11:g.(?_236795684)_(236897664_?)del
NM_000254.3(MTR):c.1200dup (p.Val401fs)
NM_000254.3(MTR):c.12_13del (p.Leu5fs)
NM_000254.3(MTR):c.1348_1349inv (p.Ser450Asp)
NM_000254.3(MTR):c.1475dup (p.Ala493fs)
NM_000254.3(MTR):c.1512del (p.Gln505fs)
NM_000254.3(MTR):c.154C>T (p.Arg52Ter)
NM_000254.3(MTR):c.1636G>T (p.Gly546Ter)
NM_000254.3(MTR):c.1812_1812+1insATAC
NM_000254.3(MTR):c.1992_1993insATCA (p.Glu665fs) rs1572278166
NM_000254.3(MTR):c.2059_2060del (p.Ile687fs) rs1664521219
NM_000254.3(MTR):c.2064dup (p.Glu689Ter)
NM_000254.3(MTR):c.2087T>G (p.Leu696Ter)
NM_000254.3(MTR):c.2100dup (p.Tyr701fs)
NM_000254.3(MTR):c.2114_2115del (p.Leu705fs) rs797044444
NM_000254.3(MTR):c.2139del (p.Met713fs)
NM_000254.3(MTR):c.2239_2240insA (p.Leu747fs)
NM_000254.3(MTR):c.2262_2265del (p.Arg755fs)
NM_000254.3(MTR):c.2405+1G>A rs1664669480
NM_000254.3(MTR):c.2472dup (p.Asp825fs)
NM_000254.3(MTR):c.2473+3A>G rs1665277406
NM_000254.3(MTR):c.2476del (p.Asp825_Ile826insTer) rs1572309822
NM_000254.3(MTR):c.2640_2642del (p.Ile881del) rs797044443
NM_000254.3(MTR):c.2669_2670del (p.Val890fs) rs794727395
NM_000254.3(MTR):c.2730_2731delinsCT (p.Met910_Glu911delinsIleTer)
NM_000254.3(MTR):c.2731dup (p.Glu911fs)
NM_000254.3(MTR):c.2752C>T (p.Gln918Ter)
NM_000254.3(MTR):c.2758C>G (p.His920Asp) rs121913579
NM_000254.3(MTR):c.2788_2791del (p.Leu930fs) rs1666006480
NM_000254.3(MTR):c.2799_2803del (p.Ala935fs)
NM_000254.3(MTR):c.313C>T (p.Gln105Ter)
NM_000254.3(MTR):c.3247_3248del (p.Ser1083fs)
NM_000254.3(MTR):c.3380dup (p.Ala1128fs) rs797044445
NM_000254.3(MTR):c.3570G>A (p.Trp1190Ter)
NM_000254.3(MTR):c.3570_3572del (p.Trp1190_Arg1191delinsTer)
NM_000254.3(MTR):c.3571A>T (p.Arg1191Ter)
NM_000254.3(MTR):c.3600del (p.Ile1201fs) rs1346847201
NM_000254.3(MTR):c.3613G>T (p.Glu1205Ter) rs121913581
NM_000254.3(MTR):c.381del (p.Ala128fs)
NM_000254.3(MTR):c.573dup (p.Leu192fs)
NM_000254.3(MTR):c.609+1088G>A rs752526782
NM_000254.3(MTR):c.610-1G>T rs1661544157
NM_000254.3(MTR):c.610-1_613dup
NM_000254.3(MTR):c.617del (p.Leu206fs)
NM_000254.3(MTR):c.648_652del (p.Lys216fs)
NM_000254.3(MTR):c.810_811insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCACGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAAATGAGACCTTTT (p.Ile271delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
NM_000254.3(MTR):c.899dup (p.Pro301fs)
NM_000254.3(MTR):c.920dup (p.His307fs)

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