List of variants reported as likely pathogenic for Methylcobalamin deficiency type cblG

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_000254.3(MTR):c.250-1G>C	rs145939391	0.00004
NM_000254.3(MTR):c.2404C>T (p.Arg802Ter)	rs138695265	0.00003
NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys)	rs1242741686	0.00002
NM_000254.3(MTR):c.1812+1G>A	rs778242201	0.00001
NM_000254.3(MTR):c.1135A>G (p.Asn379Asp)	rs1662641467
NM_000254.3(MTR):c.1188+1G>A	rs2103130072
NM_000254.3(MTR):c.1330-2A>T
NM_000254.3(MTR):c.1515+2T>C
NM_000254.3(MTR):c.1954-12A>G
NM_000254.3(MTR):c.2021G>A (p.Arg674His)	rs774231870
NM_000254.3(MTR):c.2044-1G>A
NM_000254.3(MTR):c.2305-1G>T	rs1664661222
NM_000254.3(MTR):c.2305-2A>G
NM_000254.3(MTR):c.2406-2A>T
NM_000254.3(MTR):c.2482G>A (p.Gly828Ser)	rs1413989228
NM_000254.3(MTR):c.2595-2A>G	rs1558334603
NM_000254.3(MTR):c.2758C>G (p.His920Asp)	rs121913579
NM_000254.3(MTR):c.2775+1G>T
NM_000254.3(MTR):c.2851+2T>G	rs2147922731
NM_000254.3(MTR):c.3007+1G>C
NM_000254.3(MTR):c.3008-2A>G
NM_000254.3(MTR):c.3008-4A>G	rs1224783275
NM_000254.3(MTR):c.3053dup (p.Asn1018fs)	rs1400658126
NM_000254.3(MTR):c.34+2T>C
NM_000254.3(MTR):c.3406-2A>G
NM_000254.3(MTR):c.503-2A>G
NM_000254.3(MTR):c.866-2A>C
NM_000254.3(MTR):c.927+1G>A
NM_000254.3(MTR):c.927+1G>C	rs1572218599

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