ClinVar Miner

List of variants in gene SALL1 reported as likely benign for not specified

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_002968.3(SALL1):c.3872A>G (p.Asn1291Ser) rs74499562 0.01024
NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu) rs149302006 0.00118
NM_002968.3(SALL1):c.411C>T (p.Ser137=) rs151051011 0.00093
NM_002968.3(SALL1):c.1878G>C (p.Glu626Asp) rs80248061 0.00089
NM_002968.3(SALL1):c.1903C>T (p.Pro635Ser) rs61731136 0.00058
NM_002968.3(SALL1):c.129C>T (p.His43=) rs368688611 0.00049
NM_002968.3(SALL1):c.3120A>G (p.Thr1040=) rs146655918 0.00038
NM_002968.3(SALL1):c.1322C>A (p.Thr441Asn) rs76275412 0.00034
NM_002968.3(SALL1):c.387C>T (p.Ala129=) rs147647889 0.00027
NM_002968.3(SALL1):c.3771C>T (p.Asn1257=) rs145423593 0.00003
NM_002968.3(SALL1):c.2825C>A (p.Pro942His) rs751069468 0.00001
NM_002968.3(SALL1):c.2967C>T (p.Leu989=) rs759617992 0.00001
NM_002968.3(SALL1):c.3534+5C>T rs775713627 0.00001
NM_002968.2(SALL1):c.466_477dup (p.Ser159_Gly160insSerSerSerSer) rs113614842
NM_002968.3(SALL1):c.1911G>A (p.Ala637=) rs148595195
NM_002968.3(SALL1):c.3180C>A (p.Leu1060=) rs142054182
NM_002968.3(SALL1):c.3322G>A (p.Val1108Ile) rs148931484
NM_002968.3(SALL1):c.3535-44CT[6] rs142249003
NM_002968.3(SALL1):c.448AGC[11] (p.Ser159dup) rs113614842
NM_002968.3(SALL1):c.448AGC[7] (p.Ser157_Ser159del) rs113614842
NM_002968.3(SALL1):c.477_478insAGCGGC (p.Ser159_Gly160insSerGly) rs1555475415
NM_002968.3(SALL1):c.478GGC[5] (p.Gly163dup) rs1555475414
NM_002968.3(SALL1):c.76+26AC[5] rs200502187

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