List of variants in gene AGPAT2 reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_006412.4(AGPAT2):c.589-2A>G	rs116807569	0.00043
NM_006412.4(AGPAT2):c.377dup (p.Pro128fs)	rs387906355	0.00008
NM_006412.4(AGPAT2):c.570C>A (p.Tyr190Ter)	rs121908926	0.00002
NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter)	rs104894093	0.00001
NM_006412.4(AGPAT2):c.493-1G>C	rs606231168	0.00001
NM_006412.4(AGPAT2):c.316+1G>T
NM_006412.4(AGPAT2):c.366_588+534del
NM_006412.4(AGPAT2):c.415TTC[1] (p.Phe140del)	rs387906356
NM_006412.4(AGPAT2):c.514G>A (p.Glu172Lys)	rs748157664
NM_006412.4(AGPAT2):c.643A>T (p.Lys215Ter)	rs121908925
NM_006412.4(AGPAT2):c.683T>C (p.Leu228Pro)	rs104894100
NM_006412.4(AGPAT2):c.685G>T (p.Glu229Ter)	rs1255380257

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