List of variants reported as uncertain significance for Methylcobalamin deficiency type cblE by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_002454.3(MTRR):c.1021G>A (p.Val341Ile)	rs74790259	0.00059
NM_002454.3(MTRR):c.906T>C (p.Asn302=)	rs144729918	0.00025
NM_002454.3(MTRR):c.2071C>T (p.Arg691Cys)	rs148414435	0.00023
NM_002454.3(MTRR):c.505G>A (p.Val169Met)	rs147742177	0.00021
NM_002454.3(MTRR):c.973C>A (p.Gln325Lys)	rs138098668	0.00012
NM_002454.3(MTRR):c.1677-2dup	rs747255318	0.00009
NM_002454.3(MTRR):c.1676+3A>G	rs369853875	0.00008
NM_002454.3(MTRR):c.1120C>T (p.Leu374Phe)	rs372106115	0.00007
NM_002454.3(MTRR):c.21A>G (p.Leu7=)	rs114427781	0.00007
NM_002454.3(MTRR):c.1246T>C (p.Phe416Leu)	rs769915505	0.00006
NM_002454.3(MTRR):c.346C>A (p.Gln116Lys)	rs202110383	0.00005
NM_002454.3(MTRR):c.503C>T (p.Pro168Leu)	rs757635349	0.00005
NM_002454.3(MTRR):c.209G>A (p.Arg70His)	rs777202031	0.00004
NM_002454.3(MTRR):c.208C>T (p.Arg70Cys)	rs374239028	0.00003
NM_002454.3(MTRR):c.1035A>G (p.Ile345Met)	rs140944718	0.00001
NM_002454.3(MTRR):c.1086G>A (p.Ala362=)	rs750381895	0.00001
NM_002454.3(MTRR):c.1135A>G (p.Ile379Val)	rs746404785	0.00001
NM_002454.3(MTRR):c.1253G>A (p.Arg418Gln)	rs749461781	0.00001
NM_002454.3(MTRR):c.1769+8A>G	rs892239997	0.00001
NM_002454.3(MTRR):c.1844T>C (p.Val615Ala)	rs1318949494	0.00001
NM_002454.3(MTRR):c.1890G>A (p.Gln630=)	rs9282786	0.00001
NM_002454.3(MTRR):c.399A>G (p.Val133=)	rs560392566	0.00001
NM_002454.3(MTRR):c.832A>G (p.Ile278Val)	rs1377146830	0.00001
NM_002454.3(MTRR):c.1364G>C (p.Cys455Ser)	rs764469824
NM_002454.3(MTRR):c.1490T>C (p.Val497Ala)	rs1737849237
NM_002454.3(MTRR):c.1717G>A (p.Ala573Thr)	rs1738616151
NM_002454.3(MTRR):c.1998A>G (p.Gln666=)	rs767507060
NM_002454.3(MTRR):c.220A>G (p.Lys74Glu)	rs1748351304
NM_002454.3(MTRR):c.99A>C (p.Ala33=)	rs1747850617

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