List of variants reported as pathogenic for Methylmalonic acidemia with homocystinuria, type cblJ by Invitae

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_005050.4(ABCD4):c.542+1G>T	rs769364566	0.00001
NC_000014.8:g.(?_74766231)_(74769615_?)del
NM_005050.4(ABCD4):c.1125del (p.Trp377fs)	rs1440898011
NM_005050.4(ABCD4):c.1158dup (p.Phe387fs)
NM_005050.4(ABCD4):c.1213_1214dup (p.Asp406fs)
NM_005050.4(ABCD4):c.1294del (p.Arg432fs)	rs1435760575
NM_005050.4(ABCD4):c.1438G>T (p.Glu480Ter)
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter)	rs767795583
NM_005050.4(ABCD4):c.1606C>T (p.Arg536Ter)
NM_005050.4(ABCD4):c.373del (p.Arg125fs)
NM_005050.4(ABCD4):c.454C>T (p.Arg152Ter)
NM_005050.4(ABCD4):c.7dup (p.Val3fs)

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