List of variants in gene SALL1 reported as likely pathogenic for polydactyly-syndactyly-triphalangism

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter)	rs1597229404
NM_002968.3(SALL1):c.2129del (p.Ile710fs)	rs2143442678
NM_002968.3(SALL1):c.2287dup (p.Arg763fs)	rs1597229151
NM_002968.3(SALL1):c.252del (p.Phe85fs)
NM_002968.3(SALL1):c.269dup (p.Pro91fs)	rs2143452445
NM_002968.3(SALL1):c.2801del (p.Ser934fs)	rs1597228490
NM_002968.3(SALL1):c.3381del (p.Arg1128fs)	rs2143436744
NM_002968.3(SALL1):c.3856C>T (p.Gln1286Ter)
NM_002968.3(SALL1):c.601C>T (p.Gln201Ter)	rs2143450145
NM_002968.3(SALL1):c.724del (p.His242fs)
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter)	rs104894537
NM_002968.3(SALL1):c.871C>T (p.Gln291Ter)	rs1962424706

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