ClinVar Miner

List of variants in gene SALL1 reported as likely benign for Townes syndrome

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Total variants: 5
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HGVS dbSNP
NM_002968.2(SALL1):c.1014T>G (p.Ser338=) rs960886445
NM_002968.2(SALL1):c.3120A>G (p.Thr1040=) rs146655918
NM_002968.2(SALL1):c.3199C>T (p.Leu1067Phe) rs1375814966
NM_002968.2(SALL1):c.478_480GGC[5] (p.Gly163dup) rs1555475414
NM_002968.2(SALL1):c.855A>G (p.Leu285=) rs762324270

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