List of variants reported as pathogenic for SSR4-congenital disorder of glycosylation

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
Multiple alleles
NM_001204526.1:c.1_185del
NM_006280.3(SSR4):c.141dup (p.Val48fs)	rs2092142348
NM_006280.3(SSR4):c.187-301_352-15del	rs1557072752
NM_006280.3(SSR4):c.241C>T (p.Gln81Ter)	rs2092148846
NM_006280.3(SSR4):c.261+2_261+8del	rs2148450759
NM_006280.3(SSR4):c.269G>A (p.Trp90Ter)	rs2148450972
NM_006280.3(SSR4):c.270G>A (p.Trp90Ter)
NM_006280.3(SSR4):c.317del (p.Phe106fs)	rs606231298
NM_006280.3(SSR4):c.358_359del (p.Arg120fs)	rs794729223
NM_006280.3(SSR4):c.417+1G>A	rs1057518735
NM_006280.3(SSR4):c.418-1G>A	rs1057518736
Single allele

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