List of variants in gene combination CHSY1, LOC130058068 reported as uncertain significance for Temtamy preaxial brachydactyly syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_014918.5(CHSY1):c.209T>G (p.Leu70Arg)	rs745978128	0.00015
NM_014918.5(CHSY1):c.253A>G (p.Asn85Asp)	rs762384442	0.00003
NM_014918.5(CHSY1):c.151G>A (p.Gly51Arg)
NM_014918.5(CHSY1):c.158C>T (p.Ala53Val)	rs2039108667
NM_014918.5(CHSY1):c.179_190dup (p.Gly60_Gly63dup)	rs1555437965
NM_014918.5(CHSY1):c.182C>T (p.Ala61Val)
NM_014918.5(CHSY1):c.191A>C (p.Asp64Ala)	rs2039108011
NM_014918.5(CHSY1):c.226G>A (p.Asp76Asn)
NM_014918.5(CHSY1):c.278C>G (p.Thr93Ser)
NM_014918.5(CHSY1):c.49G>A (p.Val17Ile)
NM_014918.5(CHSY1):c.94T>C (p.Ser32Pro)	rs760263900

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