List of variants in gene combination ARG1, MED23 reported as likely pathogenic by Fulgent Genetics, Fulgent Genetics

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000045.4(ARG1):c.383A>G (p.Asp128Gly)	rs140549609	0.00003
NM_000045.4(ARG1):c.372dup (p.Ala125fs)	rs776939220	0.00001
NM_000045.4(ARG1):c.665+2T>C	rs113645893	0.00001
NM_000045.4(ARG1):c.466-2A>G	rs1554251045
NM_000045.4(ARG1):c.58-2A>C	rs1554250040
NM_000045.4(ARG1):c.684del (p.His228_Leu229insTer)	rs2114549176
NM_000045.4(ARG1):c.818T>G (p.Leu273Ter)

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