ClinVar Miner

List of variants reported as uncertain significance for Hereditary fructosuria by Natera, Inc.

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln) rs145078268 0.00013
NM_000035.4(ALDOB):c.1011G>A (p.Gln337=) rs566549564 0.00011
NM_000035.4(ALDOB):c.849C>T (p.Asn283=) rs202062631 0.00006
NM_000035.4(ALDOB):c.255C>T (p.Tyr85=) rs761063847 0.00002
NM_000035.4(ALDOB):c.187C>T (p.Leu63Phe) rs780352710 0.00001
NM_000035.4(ALDOB):c.583G>A (p.Gly195Arg) rs777601413 0.00001
NM_000035.4(ALDOB):c.640T>C (p.Tyr214His) rs748157721 0.00001
NM_000035.4(ALDOB):c.282C>T (p.Phe94=) rs549682194
NM_000035.4(ALDOB):c.486C>T (p.Leu162=) rs773334784
NM_000035.4(ALDOB):c.529A>C (p.Ile177Leu) rs139442303

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