ClinVar Miner

List of variants in gene SALL1 reported by GeneDx

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Total variants: 24
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HGVS dbSNP
NM_001127892.1(SALL1):c.577_578TC[3] (p.Gln194fs) rs886041236
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.1405C>T (p.Arg469Cys) rs1057523061
NM_002968.2(SALL1):c.1763dup (p.Gly589fs) rs1057518232
NM_002968.2(SALL1):c.1950C>T (p.Gly650=) rs138705495
NM_002968.2(SALL1):c.2178G>A (p.Arg726=) rs144019351
NM_002968.2(SALL1):c.235G>C (p.Ala79Pro) rs536108231
NM_002968.2(SALL1):c.3099_3105dup (p.Arg1036fs) rs886042011
NM_002968.2(SALL1):c.3154C>T (p.Gln1052Ter) rs1057518131
NM_002968.2(SALL1):c.3157A>C (p.Met1053Leu) rs1057523060
NM_002968.2(SALL1):c.3326C>T (p.Pro1109Leu) rs780221020
NM_002968.2(SALL1):c.3414_3415del (p.Cys1139fs) rs1064793257
NM_002968.2(SALL1):c.3534+5C>T rs775713627
NM_002968.2(SALL1):c.3535-207G>A
NM_002968.2(SALL1):c.3601G>A (p.Gly1201Ser) rs1555474728
NM_002968.2(SALL1):c.3771C>T (p.Asn1257=) rs145423593
NM_002968.2(SALL1):c.379G>C (p.Val127Leu) rs138635817
NM_002968.2(SALL1):c.387C>T (p.Ala129=) rs147647889
NM_002968.2(SALL1):c.3915C>T (p.Asn1305=) rs140524372
NM_002968.2(SALL1):c.3938G>A (p.Arg1313His) rs529030284
NM_002968.2(SALL1):c.472A>G (p.Ser158Gly) rs139646526
NM_002968.2(SALL1):c.477_478insAGCGGC (p.Gly160_Gly161insSerGly) rs1555475415
NM_002968.2(SALL1):c.814C>T (p.Gln272Ter) rs1555475342

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