ClinVar Miner

List of variants reported as uncertain significance for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NC_000008.10:g.(?_42693095)_(42978030_?)dup
NC_000008.10:g.(?_42958672)_(42978040_?)dup
NC_000008.10:g.(?_42958682)_(42978030_?)dup
NM_032237.5(POMK):c.1024A>G (p.Met342Val) rs762404960
NM_032237.5(POMK):c.20A>G (p.Asn7Ser) rs143957574
NM_032237.5(POMK):c.254A>G (p.Lys85Arg) rs752925552
NM_032237.5(POMK):c.271G>A (p.Ala91Thr)
NM_032237.5(POMK):c.407C>T (p.Thr136Met) rs138216719
NM_032237.5(POMK):c.456C>A (p.His152Gln) rs1363145685
NM_032237.5(POMK):c.502A>C (p.Lys168Gln) rs756014333
NM_032237.5(POMK):c.565A>G (p.Ile189Val) rs149297443
NM_032237.5(POMK):c.589G>T (p.Val197Leu) rs374943200
NM_032237.5(POMK):c.599G>A (p.Arg200Gln)
NM_032237.5(POMK):c.626C>T (p.Pro209Leu) rs369093146
NM_032237.5(POMK):c.68T>C (p.Leu23Pro) rs200277006
NM_032237.5(POMK):c.704A>G (p.Asn235Ser) rs200742772
NM_032237.5(POMK):c.715G>A (p.Gly239Arg)
NM_032237.5(POMK):c.760G>A (p.Val254Met) rs34715198
NM_032237.5(POMK):c.76A>C (p.Ile26Leu)
NM_032237.5(POMK):c.883C>T (p.His295Tyr) rs1554524387
NM_032237.5(POMK):c.905T>A (p.Val302Asp) rs199756983
NM_032237.5(POMK):c.910T>C (p.Phe304Leu) rs757744253

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.