List of variants in gene SALL1 reported as benign for multiple congenital anomalies/dysmorphic syndrome

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: 40

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HGVS	dbSNP	gnomAD frequency
NM_002968.3(SALL1):c.3823G>A (p.Val1275Ile)	rs4614723	0.98884
NM_002968.3(SALL1):c.2574C>T (p.Leu858=)	rs1965024	0.50381
NM_002968.3(SALL1):c.3456C>T (p.His1152=)	rs11645288	0.19907
NM_002968.3(SALL1):c.475A>G (p.Ser159Gly)	rs13336129	0.06797
NM_002968.3(SALL1):c.2343G>C (p.Leu781=)	rs60270998	0.05087
NM_002968.3(SALL1):c.2310C>T (p.Ile770=)	rs61740811	0.04143
NM_002968.3(SALL1):c.2178G>A (p.Arg726=)	rs144019351	0.01142
NM_002968.3(SALL1):c.3872A>G (p.Asn1291Ser)	rs74499562	0.01024
NM_002968.3(SALL1):c.2544A>G (p.Gln848=)	rs45459896	0.00931
NM_002968.3(SALL1):c.390G>A (p.Pro130=)	rs75156807	0.00781
NM_002968.3(SALL1):c.3222G>A (p.Ala1074=)	rs61731131	0.00636
NM_002968.3(SALL1):c.292A>G (p.Met98Val)	rs28643388	0.00481
NM_002968.3(SALL1):c.472A>G (p.Ser158Gly)	rs139646526	0.00316
NM_002968.3(SALL1):c.1904C>T (p.Pro635Leu)	rs146454164	0.00290
NM_002968.3(SALL1):c.379G>C (p.Val127Leu)	rs138635817	0.00203
NM_002968.3(SALL1):c.3942C>T (p.Phe1314=)	rs189411650	0.00141
NM_002968.3(SALL1):c.264C>T (p.Ser88=)	rs143501736	0.00140
NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu)	rs149302006	0.00118
NM_002968.3(SALL1):c.411C>T (p.Ser137=)	rs151051011	0.00093
NM_002968.3(SALL1):c.1878G>C (p.Glu626Asp)	rs80248061	0.00089
NM_002968.3(SALL1):c.809C>T (p.Pro270Leu)	rs140827311	0.00058
NM_002968.3(SALL1):c.129C>T (p.His43=)	rs368688611	0.00049
NM_002968.3(SALL1):c.3310C>G (p.Pro1104Ala)	rs547153228	0.00048
NM_002968.3(SALL1):c.2331C>T (p.Asn777=)	rs144747142	0.00045
NM_002968.3(SALL1):c.3915C>T (p.Asn1305=)	rs140524372	0.00023
NM_002968.3(SALL1):c.1200G>A (p.Ser400=)	rs79302764	0.00022
NM_002968.3(SALL1):c.1950C>T (p.Gly650=)	rs138705495	0.00019
NM_002968.3(SALL1):c.235G>C (p.Ala79Pro)	rs536108231	0.00013
NM_002968.3(SALL1):c.39A>G (p.Gln13=)	rs768989589	0.00003
NM_002968.3(SALL1):c.537C>T (p.Leu179=)	rs200539812	0.00001
NM_002968.3(SALL1):c.*588del	rs35929381
NM_002968.3(SALL1):c.1731C>G (p.Pro577=)	rs767216757
NM_002968.3(SALL1):c.1911G>A (p.Ala637=)	rs148595195
NM_002968.3(SALL1):c.2343G>A (p.Leu781=)
NM_002968.3(SALL1):c.3180C>A (p.Leu1060=)	rs142054182
NM_002968.3(SALL1):c.448AGC[11] (p.Ser159dup)	rs113614842
NM_002968.3(SALL1):c.448AGC[12] (p.Ser158_Ser159dup)	rs113614842
NM_002968.3(SALL1):c.448AGC[13] (p.Ser157_Ser159dup)	rs113614842
NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del)	rs113614842
NM_002968.3(SALL1):c.499A>G (p.Thr167Ala)

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