ClinVar Miner

List of variants in gene SALL1 reported as pathogenic by GeneDx

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Total variants: 7
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HGVS dbSNP
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.3099_3105dup (p.Arg1036fs) rs886042011
NM_002968.2(SALL1):c.3414_3415del (p.Cys1139fs) rs1064793257
NM_002968.2(SALL1):c.814C>T (p.Gln272Ter) rs1555475342
NM_002968.2(SALL1):c.868_869TC[3] (p.Gln291fs) rs886041236

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