List of variants reported as likely pathogenic for Hereditary fructosuria by Invitae

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000035.4(ALDOB):c.379+1G>T	rs138121153	0.00004
NM_000035.4(ALDOB):c.800-2A>C	rs199965465	0.00002
NM_000035.4(ALDOB):c.2T>C (p.Met1Thr)	rs1270747182	0.00001
NC_000009.11:g.(?_104184081)_(104184196_?)del
NM_000035.4(ALDOB):c.1007_1008delinsT (p.Cys336fs)	rs1831052831
NM_000035.4(ALDOB):c.113-1G>A	rs748663340
NM_000035.4(ALDOB):c.113-1G>C	rs748663340
NM_000035.4(ALDOB):c.113-2A>G
NM_000035.4(ALDOB):c.1A>G (p.Met1Val)
NM_000035.4(ALDOB):c.1A>T (p.Met1Leu)
NM_000035.4(ALDOB):c.2T>G (p.Met1Arg)
NM_000035.4(ALDOB):c.379+1G>A	rs138121153
NM_000035.4(ALDOB):c.380-2A>G	rs1300461861
NM_000035.4(ALDOB):c.541-277_651del
NM_000035.4(ALDOB):c.624+1G>C
NM_000035.4(ALDOB):c.799+1G>A

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