List of variants in gene ALPK3 reported as likely pathogenic by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_020778.5(ALPK3):c.2645_2670del (p.Gly882fs)	rs1963877824
NM_020778.5(ALPK3):c.3726del (p.Lys1243fs)	rs745688425
NM_020778.5(ALPK3):c.412C>T (p.Gln138Ter)	rs200889953
NM_020778.5(ALPK3):c.4391del (p.Asn1464fs)	rs1450218521

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