ClinVar Miner

List of variants in gene SALL1 reported as pathogenic by Invitae

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Total variants: 11
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HGVS dbSNP
NC_000016.9:g.(?_51171003)_(51185172_?)del
NM_002968.2(SALL1):c.1214dup (p.Leu406fs) rs1555475275
NM_002968.2(SALL1):c.1324del (p.Ser442fs)
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)
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

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