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)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_014918.5(CHSY1):c.278C>G (p.Thr93Ser)	rs142148989	0.00036
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.49G>A (p.Val17Ile)	rs1421037190	0.00002
NM_014918.5(CHSY1):c.182C>T (p.Ala61Val)	rs1291373789	0.00001
NM_014918.5(CHSY1):c.191A>C (p.Asp64Ala)	rs2039108011	0.00001
NM_014918.5(CHSY1):c.94T>C (p.Ser32Pro)	rs760263900	0.00001
NM_014918.5(CHSY1):c.110C>T (p.Ala37Val)
NM_014918.5(CHSY1):c.151G>A (p.Gly51Arg)	rs1242714306
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.189_200dup (p.Gly67_Ala68insAspAlaArgGly)
NM_014918.5(CHSY1):c.219C>A (p.Pro73=)	rs373485537
NM_014918.5(CHSY1):c.226G>A (p.Asp76Asn)	rs2505429863

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