List of variants in gene combination AMT, NICN1 reported as likely pathogenic for Non-ketotic hyperglycinemia

Minimum submission review status:		Collection method:
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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_032316.3(NICN1):c.*2328C>T	rs386833677	0.00004
NM_000481.4(AMT):c.15_18del (p.Ser6fs)	rs1553638904
NM_000481.4(AMT):c.16del (p.Ser6fs)	rs1553638907
NM_000481.4(AMT):c.59del (p.Pro20fs)	rs386833686
NM_000481.4(AMT):c.61del (p.Ala21fs)	rs386833687
NM_000481.4(AMT):c.63del (p.Leu22fs)	rs386833688
NM_000481.4(AMT):c.90+1G>T
NM_032316.3(NICN1):c.2359_2468del	rs2049123051

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