List of variants in gene POMK reported as pathogenic for autosomal recessive disease

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: 20

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HGVS	dbSNP	gnomAD frequency
NM_032237.5(POMK):c.136C>T (p.Arg46Ter)	rs202036744	0.00017
NM_032237.5(POMK):c.10C>T (p.Gln4Ter)	rs202006335	0.00001
NM_032237.5(POMK):c.43C>T (p.Arg15Ter)	rs774013796	0.00001
NM_032237.5(POMK):c.907C>T (p.Arg303Ter)	rs528307346	0.00001
NC_000008.11:g.(?_43103539)_(43103840_?)del
NM_032237.5(POMK):c.152del (p.Asp51fs)	rs2130601407
NM_032237.5(POMK):c.238_239del (p.Glu80fs)	rs1454006905
NM_032237.5(POMK):c.247C>T (p.Gln83Ter)
NM_032237.5(POMK):c.280A>T (p.Arg94Ter)
NM_032237.5(POMK):c.282+1G>C	rs1206884841
NM_032237.5(POMK):c.325C>T (p.Gln109Ter)	rs587777423
NM_032237.5(POMK):c.43dup (p.Arg15fs)	rs749980792
NM_032237.5(POMK):c.452_455dup (p.His152fs)	rs2130626601
NM_032237.5(POMK):c.459del (p.Pro153_Leu154insTer)
NM_032237.5(POMK):c.645T>G (p.Tyr215Ter)
NM_032237.5(POMK):c.724dup (p.Val242fs)
NM_032237.5(POMK):c.754dup (p.Asp252fs)
NM_032237.5(POMK):c.803del (p.Phe268fs)
NM_032237.5(POMK):c.847del (p.Trp283fs)
NM_032237.5(POMK):c.94_98del (p.Thr32fs)

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