List of variants reported as benign 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: 25

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HGVS	dbSNP	gnomAD frequency
NM_002454.3(MTRR):c.66A>G (p.Ile22Met)	rs1801394	0.44947
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu)	rs1532268	0.31601
NM_002454.3(MTRR):c.1911G>A (p.Ala637=)	rs1802059	0.31218
NM_002454.3(MTRR):c.537T>C (p.Leu179=)	rs161870	0.20980
NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg)	rs162036	0.20973
NM_002454.3(MTRR):c.1783C>T (p.His595Tyr)	rs10380	0.18188
NM_002454.3(MTRR):c.1243C>T (p.Arg415Cys)	rs2287780	0.04230
NM_002454.3(MTRR):c.903+518T>A	rs77578255	0.03893
NM_002454.3(MTRR):c.1349C>G (p.Pro450Arg)	rs16879334	0.03856
NM_002454.3(MTRR):c.769T>A (p.Ser257Thr)	rs2303080	0.03048
NM_002454.3(MTRR):c.1536C>T (p.Ser512=)	rs34172797	0.01824
NM_002454.3(MTRR):c.1464A>G (p.Val488=)	rs35890938	0.01708
NM_002454.3(MTRR):c.1761T>C (p.Tyr587=)	rs6874544	0.01706
NM_002454.3(MTRR):c.1653G>A (p.Pro551=)	rs139206262	0.00700
NM_002454.3(MTRR):c.1819G>A (p.Val607Ile)	rs114259126	0.00366
NM_002454.3(MTRR):c.876C>T (p.Thr292=)	rs144724549	0.00341
NM_002454.3(MTRR):c.210C>G (p.Arg70=)	rs41282641	0.00303
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.879T>C (p.Thr293=)	rs773629167	0.00058
NM_002454.3(MTRR):c.540G>A (p.Val180=)	rs149037732	0.00046
NM_002454.3(MTRR):c.246G>C (p.Pro82=)	rs149300444	0.00003
NM_002454.3(MTRR):c.1091_1093del (p.Cys364del)	rs796052001
NM_002454.3(MTRR):c.1875G>A (p.Val625=)	rs12347
NM_002454.3(MTRR):c.997C>G (p.Leu333Val)	rs10064631

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