List of variants reported as likely benign for Disorders of Intracellular Cobalamin Metabolism by Illumina Laboratory Services, Illumina

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		ClinVar version:

Total variants: 47

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HGVS	dbSNP	gnomAD frequency
NM_000254.3(MTR):c.*2879G>A	rs74992803	0.02599
NM_000254.3(MTR):c.*4461T>G	rs113118968	0.02599
NM_018368.3(LMBRD1):c.-250G>C	rs112053239	0.02394
NM_000254.3(MTR):c.*3322C>G	rs76520920	0.02032
NM_000254.3(MTR):c.3683_3684insTTAA	rs149280661	0.01046
NM_000254.3(MTR):c.*3493A>G	rs41304165	0.00626
NM_000254.3(MTR):c.*2887C>G	rs141686413	0.00586
NM_000254.3(MTR):c.858C>T (p.Pro286=)	rs146019467	0.00576
NM_000254.3(MTR):c.155G>A (p.Arg52Gln)	rs12749581	0.00417
NM_002454.3(MTRR):c.1468A>G (p.Thr490Ala)	rs41283145	0.00414
NM_000254.3(MTR):c.*5000T>G	rs145360296	0.00412
NM_000254.3(MTR):c.1076-8C>T	rs115186224	0.00321
NM_000254.3(MTR):c.*465T>A	rs114724980	0.00317
NM_000254.3(MTR):c.*1744A>G	rs114324996	0.00308
NM_002454.3(MTRR):c.210C>G (p.Arg70=)	rs41282641	0.00303
NM_015702.3(MMADHC):c.-8C>T	rs180812156	0.00282
NM_002454.3(MTRR):c.1326C>T (p.Leu442=)	rs144781389	0.00274
NM_000254.3(MTR):c.*286C>T	rs78201060	0.00268
NM_000254.3(MTR):c.1485G>A (p.Met495Ile)	rs2229275	0.00265
NM_000254.3(MTR):c.*4823G>A	rs74322958	0.00242
NM_000254.3(MTR):c.3079C>T (p.Arg1027Trp)	rs116836001	0.00235
NM_000254.3(MTR):c.3337G>A (p.Ala1113Thr)	rs146071220	0.00203
NM_002454.3(MTRR):c.739C>T (p.Pro247Ser)	rs114053717	0.00190
NM_000254.3(MTR):c.*287G>A	rs149786323	0.00181
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)	rs141093638	0.00181
NM_000254.3(MTR):c.*4443C>T	rs189875201	0.00171
NM_015506.3(MMACHC):c.*975C>G	rs551730972	0.00161
NM_000254.3(MTR):c.*773T>G	rs74936029	0.00158
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala)	rs147370143	0.00117
NM_000254.3(MTR):c.*3788A>C	rs184684509	0.00108
NM_015506.3(MMACHC):c.*1144A>T	rs181611783	0.00088
NM_000254.3(MTR):c.-321C>G	rs187186973	0.00078
NM_000254.3(MTR):c.*2538A>G	rs148021206	0.00073
NM_000254.3(MTR):c.*1134G>A	rs545746282	0.00036
NM_000254.3(MTR):c.*1133C>T	rs543533866	0.00029
NM_000254.3(MTR):c.*1451T>G	rs147859146	0.00014
NM_000254.3(MTR):c.*4293C>T	rs532989425	0.00010
NM_000254.3(MTR):c.3141C>T (p.Tyr1047=)	rs560615373	0.00007
NM_000254.3(MTR):c.1076-11C>T	rs186367553	0.00006
NM_015506.3(MMACHC):c.495G>A (p.Leu165=)	rs761111018	0.00003
NM_000254.3(MTR):c.2772C>G (p.Leu924=)	rs533541925	0.00002
NM_000254.3(MTR):c.3598+15G>A	rs754129736	0.00002
NM_000254.3(MTR):c.*5194AAAAC[3]	rs141529013
NM_000254.3(MTR):c.-173G>T	rs3738548
NM_015506.3(MMACHC):c.433A>T (p.Ile145Leu)	rs74365027
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser)	rs201025783
NM_018368.4(LMBRD1):c.981-10dup	rs202207965

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