List of variants reported as pathogenic for Galactosemia 4 by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_138801.3(GALM):c.424G>A (p.Gly142Arg)	rs114440198	0.00194
NM_138801.3(GALM):c.932G>A (p.Trp311Ter)	rs767153310	0.00001
NM_138801.3(GALM):c.244C>T (p.Arg82Ter)	rs115413295
NM_138801.3(GALM):c.294del (p.Ile99fs)	rs751902026
NM_138801.3(GALM):c.799C>G (p.Arg267Gly)	rs1229797646

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