ClinVar Miner

List of variants studied for Methylcobalamin deficiency type cblG by Mendelics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000254.3(MTR):c.155G>A (p.Arg52Gln)	rs12749581	0.00417
NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys)	rs1242741686	0.00002
NM_000254.3(MTR):c.*16del	rs67705775
NM_000254.3(MTR):c.2059_2060del (p.Ile687fs)	rs1664521219
NM_000254.3(MTR):c.2482G>A (p.Gly828Ser)	rs1413989228

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