ClinVar Miner

List of variants in gene SALL1 reported as pathogenic

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Total variants: 31
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HGVS dbSNP
NC_000016.9:g.(?_51171003)_(51185172_?)del
NM_001127892.1(SALL1):c.1054_1055CA[1] (p.His352fs)
NM_001127892.1(SALL1):c.1530del (p.Leu511fs)
NM_001127892.1(SALL1):c.501_502del (p.Leu167fs)
NM_001127892.1(SALL1):c.704del (p.Pro235fs)
NM_001127892.1(SALL1):c.824C>A (p.Ser275Ter) rs104894535
NM_001127892.1(SALL1):c.824C>G (p.Ser275Ter) rs104894535
NM_001127892.1(SALL1):c.979del (p.Gln327fs)
NM_001127892.1(SALL1):c.986_987del (p.Arg329fs)
NM_002968.2(SALL1):c.1108_1109del (p.Val370fs) rs1085307143
NM_002968.2(SALL1):c.1214dup (p.Leu406fs) rs1555475275
NM_002968.2(SALL1):c.1256T>A (p.Leu419Ter) rs137853084
NM_002968.2(SALL1):c.1324del (p.Ser442fs)
NM_002968.2(SALL1):c.1380_1381del (p.Ser460fs) rs1064796960
NM_002968.2(SALL1):c.1393C>T (p.Gln465Ter) rs1057518273
NM_002968.2(SALL1):c.1763dup (p.Gly589fs) rs1057518232
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.3099_3105dup (p.Arg1036fs) rs886042011
NM_002968.2(SALL1):c.3160C>T (p.Arg1054Ter) rs864321635
NM_002968.2(SALL1):c.3414_3415del (p.Cys1139fs) rs1064793257
NM_002968.2(SALL1):c.727C>T (p.Gln243Ter) rs886044708
NM_002968.2(SALL1):c.814C>T (p.Gln272Ter) rs1555475342
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.868_869TC[3] (p.Gln291fs) rs886041236
NM_002968.2(SALL1):c.949C>T (p.Pro317Ser) rs864621971
NM_002968.2(SALL1):c.958C>T (p.Gln320Ter) rs1555475319
NM_002968.2(SALL1):c.967C>T (p.Gln323Ter) rs104894538
SALL1, 2-BP DEL, 3414AT

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