ClinVar Miner

List of variants in gene SALL1 studied for Townes syndrome

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Total variants: 23
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HGVS dbSNP
NC_000016.9:g.(?_51171003)_(51185172_?)del
NM_001127892.1(SALL1):c.157_159AGC[11] (p.Ser62dup) rs113614842
NM_001127892.1(SALL1):c.187_189GGC[5] (p.Gly66dup) rs1555475414
NM_002968.2(SALL1):c.1014T>G (p.Ser338=) rs960886445
NM_002968.2(SALL1):c.1214dup (p.Leu406fs) rs1555475275
NM_002968.2(SALL1):c.2256del (p.Tyr753fs) rs1555475120
NM_002968.2(SALL1):c.2310C>T (p.Ile770=) rs61740811
NM_002968.2(SALL1):c.2343G>C (p.Leu781=) rs60270998
NM_002968.2(SALL1):c.2356del (p.Arg786fs) rs1555475106
NM_002968.2(SALL1):c.264C>T (p.Ser88=) rs143501736
NM_002968.2(SALL1):c.3005_3008del (p.Ala1002fs)
NM_002968.2(SALL1):c.3120A>G (p.Thr1040=) rs146655918
NM_002968.2(SALL1):c.3160C>T (p.Arg1054Ter) rs864321635
NM_002968.2(SALL1):c.3199C>T (p.Leu1067Phe) rs1375814966
NM_002968.2(SALL1):c.3414_3415del (p.Cys1139fs) rs1064793257
NM_002968.2(SALL1):c.3584G>A (p.Arg1195Gln)
NM_002968.2(SALL1):c.3872A>G (p.Asn1291Ser) rs74499562
NM_002968.2(SALL1):c.548C>A (p.Thr183Lys)
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)

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