List of variants in gene SACS reported as pathogenic for Inborn genetic diseases

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)	rs780247476	0.00001
NM_014363.6(SACS):c.11707C>T (p.Arg3903Ter)	rs774906736	0.00001
NM_014363.6(SACS):c.3066del (p.Asn1025fs)	rs1057516767	0.00001
NM_014363.6(SACS):c.12673_12677del (p.Tyr4225fs)	rs775863207
NM_014363.6(SACS):c.1706G>A (p.Trp569Ter)	rs1555254256
NM_014363.6(SACS):c.3059dup (p.Ser1021fs)	rs1869136727
NM_014363.6(SACS):c.3356del (p.Pro1119fs)	rs1057517039
NM_014363.6(SACS):c.5151dup (p.Ser1718fs)	rs754439135
NM_014363.6(SACS):c.6155C>G (p.Ser2052Ter)	rs2542254565
NM_014363.6(SACS):c.7139del (p.Asn2380fs)	rs1057516689

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