List of variants reported as pathogenic for inborn disorder of serine family metabolism by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 35

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HGVS	dbSNP	gnomAD frequency
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter)	rs191905539	0.00012
NM_000481.4(AMT):c.230C>T (p.Ser77Leu)	rs386833680	0.00006
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met)	rs121907987	0.00006
NM_000170.3(GLDC):c.2489C>T (p.Thr830Met)	rs386833560	0.00004
NM_000481.4(AMT):c.280C>T (p.Arg94Trp)	rs1126422	0.00004
NM_000481.4(AMT):c.959G>A (p.Arg320His)	rs121964985	0.00004
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter)	rs386833517	0.00003
NM_000170.3(GLDC):c.1166C>T (p.Ala389Val)	rs121964979	0.00003
NM_000170.3(GLDC):c.2316-1G>A	rs386833554	0.00003
NM_000170.3(GLDC):c.2665+1G>C	rs149070244	0.00003
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly)	rs188269735	0.00003
NM_000481.4(AMT):c.878-1G>A	rs181134220	0.00003
NM_000170.2(GLDC):c.2980G>A (p.Gly994Arg)	rs1406713104	0.00001
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp)	rs150171524	0.00001
NM_000170.3(GLDC):c.128del (p.Asp43fs)	rs1251443902	0.00001
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln)	rs386833524	0.00001
NM_000170.3(GLDC):c.2186del (p.Ala729fs)	rs386833543	0.00001
NM_000170.3(GLDC):c.2919+1G>A	rs386833575	0.00001
NM_000170.3(GLDC):c.806C>T (p.Thr269Met)	rs386833587	0.00001
NM_000481.4(AMT):c.664C>T (p.Arg222Cys)	rs781466698	0.00001
NM_000170.3(GLDC):c.1444dup (p.Asp482fs)	rs386833526
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)	rs121964976
NM_000170.3(GLDC):c.1580+2T>G	rs1554646710
NM_000170.3(GLDC):c.1629del (p.Asn543fs)	rs1345599468
NM_000170.3(GLDC):c.1868_1869dup (p.Ala624fs)	rs772068893
NM_000170.3(GLDC):c.2203-2A>G	rs386833545
NM_000170.3(GLDC):c.2481_2484del (p.Gln828fs)	rs766762760
NM_000170.3(GLDC):c.2798T>C (p.Ile933Thr)	rs758029533
NM_000170.3(GLDC):c.2919+1G>C	rs386833575
NM_000170.3(GLDC):c.2T>C (p.Met1Thr)	rs121964978
NM_000170.3(GLDC):c.482A>G (p.Tyr161Cys)	rs386833580
NM_000170.3(GLDC):c.706C>T (p.Arg236Ter)	rs386833585
NM_000481.4(AMT):c.15_18del (p.Ser6fs)	rs1553638904
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del)	rs386833683
NM_000481.4(AMT):c.471+2T>C	rs386833684

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