List of variants in gene SALL1 reported as likely pathogenic

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_002968.3(SALL1):c.703G>A (p.Ala235Thr)	rs761053549	0.00003
NM_002968.3(SALL1):c.1666G>A (p.Gly556Ser)	rs776856200	0.00001
NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter)	rs1597229404
NM_002968.3(SALL1):c.2129del (p.Ile710fs)	rs2143442678
NM_002968.3(SALL1):c.2225_2226del (p.Ala742fs)
NM_002968.3(SALL1):c.2287dup (p.Arg763fs)	rs1597229151
NM_002968.3(SALL1):c.2409dup (p.Glu804Ter)	rs1597229025
NM_002968.3(SALL1):c.242del (p.Pro81fs)
NM_002968.3(SALL1):c.269dup (p.Pro91fs)	rs2143452445
NM_002968.3(SALL1):c.2712_2715del (p.Gly906fs)	rs1597228550
NM_002968.3(SALL1):c.2801del (p.Ser934fs)	rs1597228490
NM_002968.3(SALL1):c.3154C>T (p.Gln1052Ter)	rs1057518131
NM_002968.3(SALL1):c.3160C>T (p.Arg1054Ter)	rs864321635
NM_002968.3(SALL1):c.3326C>T (p.Pro1109Leu)	rs780221020
NM_002968.3(SALL1):c.3381del (p.Arg1128fs)	rs2143436744
NM_002968.3(SALL1):c.601C>T (p.Gln201Ter)	rs2143450145
NM_002968.3(SALL1):c.712C>T (p.Gln238Ter)	rs1567316325
NM_002968.3(SALL1):c.871C>T (p.Gln291Ter)	rs1962424706

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