List of variants in gene combination CHSY1, LOC130058068 reported as likely benign for autosomal recessive disease

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_014918.5(CHSY1):c.21C>T (p.Arg7=)	rs751409111	0.00086
NM_014918.5(CHSY1):c.261C>T (p.Leu87=)	rs369927768	0.00054
NM_014918.5(CHSY1):c.203C>T (p.Ala68Val)	rs780349909	0.00020
NM_014918.5(CHSY1):c.135C>T (p.Pro45=)	rs921119348	0.00008
NM_014918.5(CHSY1):c.255C>T (p.Asn85=)	rs775018701	0.00002
NM_014918.5(CHSY1):c.51C>T (p.Val17=)	rs1192394140	0.00001
NM_014918.5(CHSY1):c.120G>C (p.Arg40=)
NM_014918.5(CHSY1):c.138G>A (p.Glu46=)
NM_014918.5(CHSY1):c.219C>A (p.Pro73=)	rs373485537
NM_014918.5(CHSY1):c.306C>A (p.Ala102=)	rs753652939
NM_014918.5(CHSY1):c.320+20G>C	rs2039105249
NM_014918.5(CHSY1):c.48C>A (p.Leu16=)

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