ClinVar Miner

List of variants in gene POMT2 reported by Broad Institute Rare Disease Group, Broad Institute

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp) rs727502855 0.00002
NM_013382.7(POMT2):c.1248C>G (p.His416Gln) rs1566649375
NM_013382.7(POMT2):c.1726-1dup rs1229291913
NM_013382.7(POMT2):c.333+1G>T

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