List of variants in gene SACS reported as uncertain significance by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)	rs111540787	0.00332
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)	rs61729954	0.00227
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)	rs146451611	0.00197
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)	rs140551762	0.00178
NM_014363.6(SACS):c.9852A>G (p.Thr3284=)	rs147506904	0.00099
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile)	rs150981983	0.00097
NM_014363.6(SACS):c.1917A>G (p.Ala639=)	rs138457742	0.00084
NM_014363.6(SACS):c.10668G>A (p.Leu3556=)	rs139517699	0.00070
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys)	rs61754478	0.00019
NM_014363.6(SACS):c.11703T>C (p.Asn3901=)	rs146154135	0.00016
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val)	rs186436335	0.00013
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn)	rs372359781	0.00011
NM_014363.6(SACS):c.2643G>C (p.Glu881Asp)	rs200517685	0.00010
NM_014363.6(SACS):c.1255A>G (p.Ile419Val)	rs767818359	0.00009
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr)	rs371869943	0.00009
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys)	rs749383532	0.00008
NM_014363.6(SACS):c.1202G>A (p.Arg401Gln)	rs749599838	0.00005
NM_014363.6(SACS):c.8142G>A (p.Ser2714=)	rs530250252	0.00003
NM_014363.6(SACS):c.6240T>C (p.Val2080=)	rs550680855	0.00002
NM_014363.6(SACS):c.7466C>A (p.Pro2489His)	rs766553685	0.00002
NM_014363.6(SACS):c.11899C>G (p.Gln3967Glu)	rs1261408099	0.00001
NM_014363.6(SACS):c.2233C>T (p.Arg745Cys)	rs536614181	0.00001
NM_014363.6(SACS):c.8133G>A (p.Ser2711=)	rs143386746	0.00001
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile)	rs772742353	0.00001
NM_014363.6(SACS):c.9731T>A (p.Leu3244His)	rs886042769	0.00001
NM_014363.6(SACS):c.10461_10462delinsAA (p.Asn3487_Leu3488delinsLysIle)	rs886043821
NM_014363.6(SACS):c.11152G>A (p.Glu3718Lys)	rs750040557
NM_014363.6(SACS):c.4279C>A (p.Pro1427Thr)	rs527513599
NM_014363.6(SACS):c.4469C>G (p.Ala1490Gly)	rs886043557
NM_014363.6(SACS):c.4604T>G (p.Phe1535Cys)	rs1566068804
NM_014363.6(SACS):c.4747C>A (p.Pro1583Thr)	rs1566068552
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val)	rs537408260
NM_014363.6(SACS):c.8022T>C (p.Phe2674=)	rs34928783

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