List of variants studied for Methylcobalamin deficiency type cblE; Neural tube defects, folate-sensitive

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_002454.3(MTRR):c.1155G>A (p.Leu385=)	rs2287779	0.04224
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.869T>C (p.Ile290Thr)	rs144899305	0.00092
NM_002454.3(MTRR):c.505G>A (p.Val169Met)	rs147742177	0.00021
NM_002454.3(MTRR):c.973C>A (p.Gln325Lys)	rs138098668	0.00014
NM_002454.3(MTRR):c.1769+1G>A	rs778738842	0.00009
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter)	rs147277149	0.00007
NM_002454.3(MTRR):c.1537G>A (p.Gly513Arg)	rs150411351	0.00006
NM_002454.3(MTRR):c.1129C>T (p.Arg377Ter)	rs147960130	0.00002
NM_002454.3(MTRR):c.166G>A (p.Val56Met)	rs761061866	0.00002
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter)	rs754990692	0.00002
NM_002454.3(MTRR):c.766G>T (p.Glu256Ter)	rs375908206	0.00002
NM_002454.3(MTRR):c.1156C>T (p.Arg386Ter)	rs1421007019	0.00001
NM_002454.3(MTRR):c.52A>G (p.Ile18Val)	rs753325140	0.00001
NM_002454.3(MTRR):c.596C>G (p.Ser199Ter)	rs748533060	0.00001
NM_002454.3(MTRR):c.763C>T (p.Gln255Ter)	rs1353165398	0.00001
NM_002454.3(MTRR):c.1147-1G>A
NM_002454.3(MTRR):c.1164del (p.Val389fs)
NM_002454.3(MTRR):c.118G>T (p.Glu40Ter)	rs2478648157
NM_002454.3(MTRR):c.1279CTC[2] (p.Leu429del)
NM_002454.3(MTRR):c.1459G>C (p.Gly487Arg)
NM_002454.3(MTRR):c.1677-1G>A	rs747041200
NM_002454.3(MTRR):c.1725G>A (p.Trp575Ter)
NM_002454.3(MTRR):c.226del (p.Ile76fs)
NM_002454.3(MTRR):c.339del (p.Lys113fs)
NM_002454.3(MTRR):c.378_384del (p.Gly127fs)	rs1748694912
NM_002454.3(MTRR):c.488_489del (p.Ile163fs)
NM_002454.3(MTRR):c.593del (p.Asp198fs)

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