List of variants in gene SALL1 reported as pathogenic by Invitae

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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 14

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HGVS	dbSNP
NC_000016.10:g.(?_51137092)_(51151261_?)del
NM_002968.2(SALL1):c.1214dup (p.Leu406fs)	rs1555475275
NM_002968.2(SALL1):c.2256del (p.Tyr753fs)	rs1555475120
NM_002968.2(SALL1):c.2356del (p.Arg786fs)	rs1555475106
NM_002968.2(SALL1):c.3005_3008del (p.Ala1002fs)	rs1597228188
NM_002968.2(SALL1):c.3414_3415del (p.Cys1139fs)	rs1064793257
NM_002968.2(SALL1):c.826C>T (p.Arg276Ter)	rs104894537
NM_002968.2(SALL1):c.866T>A (p.Leu289Ter)	rs1555475334
NM_002968.2(SALL1):c.958C>T (p.Gln320Ter)	rs1555475319
NM_002968.2(SALL1):c.967C>T (p.Gln323Ter)	rs104894538
NM_002968.3(SALL1):c.1324del (p.Ser442fs)	rs1597230288
NM_002968.3(SALL1):c.420del (p.Ser141fs)
NM_002968.3(SALL1):c.750dup (p.Arg251fs)
NM_002968.3(SALL1):c.871C>T (p.Gln291Ter)

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