List of variants studied for Hereditary fructosuria by OMIM

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)	rs1800546	0.00319
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)	rs76917243	0.00030
NM_000035.4(ALDOB):c.442T>C (p.Trp148Arg)	rs118204430	0.00013
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter)	rs118204429	0.00010
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His)	rs369586696	0.00006
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp)	rs41281039	0.00001
NM_000035.4(ALDOB):c.-10-2043_624+62del
NM_000035.4(ALDOB):c.1000-1_1006delinsTG	rs2118333206
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys)	rs78340951
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter)	rs118204428
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs)	rs387906225
NM_000035.4(ALDOB):c.548_553del (p.Leu183_Val184del)	rs387906226
NM_000035.4(ALDOB):c.625-1G>A	rs1564077542
NM_000035.4(ALDOB):c.720C>A (p.Cys240Ter)	rs118204426
NM_000035.4(ALDOB):c.865_867del (p.Leu289del)	rs118204425

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