List of variants in gene POMK studied for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_032237.5(POMK):c.282+34C>A	rs5024011	0.99646
NM_032237.5(POMK):c.565A>G (p.Ile189Val)	rs149297443	0.00057
NM_032237.5(POMK):c.44G>A (p.Arg15Gln)	rs377725187	0.00019
NM_032237.5(POMK):c.704A>G (p.Asn235Ser)	rs200742772	0.00008
NM_032237.5(POMK):c.773A>G (p.Gln258Arg)	rs397509386	0.00004
NM_032237.5(POMK):c.905T>A (p.Val302Asp)	rs199756983	0.00002
NM_032237.5(POMK):c.410T>G (p.Leu137Arg)	rs397509385	0.00001
NM_032237.5(POMK):c.43C>T (p.Arg15Ter)	rs774013796	0.00001
NM_032237.5(POMK):c.268G>A (p.Gly90Arg)	rs2130601657
NM_032237.5(POMK):c.288del (p.Leu97fs)	rs606231306
NM_032237.5(POMK):c.325C>T (p.Gln109Ter)	rs587777423
NM_032237.5(POMK):c.352G>T (p.Asp118Tyr)
NM_032237.5(POMK):c.386_387del (p.Leu129fs)	rs2130626422

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