ClinVar Miner

List of variants reported as uncertain significance for Temtamy preaxial brachydactyly syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_014918.5(CHSY1):c.1600A>T (p.Ile534Leu)	rs141305214	0.00017
NM_014918.5(CHSY1):c.1718A>G (p.Asn573Ser)	rs372414536	0.00004
NM_014918.5(CHSY1):c.697C>T (p.Arg233Trp)	rs758494719	0.00004

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