ClinVar Miner

List of variants in gene SALL1 reported as pathogenic by GeneDx

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_002968.3(SALL1):c.3414_3415del (p.Cys1139fs) rs1064793257 0.00001
NM_002968.3(SALL1):c.1112C>G (p.Ser371Ter)
NM_002968.3(SALL1):c.1380_1381del (p.Ser460fs) rs1064796960
NM_002968.3(SALL1):c.1393C>T (p.Gln465Ter) rs1057518273
NM_002968.3(SALL1):c.1763dup (p.Gly589fs) rs1057518232
NM_002968.3(SALL1):c.3099_3105dup (p.Arg1036fs) rs886042011
NM_002968.3(SALL1):c.3160C>T (p.Arg1054Ter) rs864321635
NM_002968.3(SALL1):c.388_391delinsTTTGCTAACAAAGCGGCAGCGGCACTT (p.Pro130fs) rs2143451854
NM_002968.3(SALL1):c.565_566dup (p.Val190fs) rs2143450333
NM_002968.3(SALL1):c.814C>T (p.Gln272Ter) rs1555475342
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter) rs104894537
NM_002968.3(SALL1):c.870_871dup (p.Gln291fs) rs886041236

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