ClinVar Miner

List of variants in gene DBNL, LOC129998343, PGAM2 studied for Glycogen storage disease type X

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000290.4(PGAM2):c.216C>T (p.Asp72=) rs111656877 0.01481
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter) rs10250779 0.00166
NM_000290.4(PGAM2):c.264T>C (p.Asn88=) rs146272559 0.00007
NM_000290.4(PGAM2):c.266A>C (p.Glu89Ala) rs104894030 0.00007
NM_000290.4(PGAM2):c.256C>T (p.Arg86Cys) rs371509257 0.00006
NM_000290.4(PGAM2):c.252T>C (p.Thr84=) rs755125202 0.00002
NM_000290.4(PGAM2):c.201C>T (p.Leu67=)
NM_000290.4(PGAM2):c.221C>T (p.Thr74Met)
NM_000290.4(PGAM2):c.222G>A (p.Thr74=)
NM_000290.4(PGAM2):c.232T>C (p.Trp78Arg) rs1191913196
NM_000290.4(PGAM2):c.234G>A (p.Trp78Ter)
NM_000290.4(PGAM2):c.244G>A (p.Val82Met) rs528467394
NM_000290.4(PGAM2):c.244G>T (p.Val82Leu) rs528467394
NM_000290.4(PGAM2):c.247C>T (p.Arg83Cys)
NM_000290.4(PGAM2):c.251C>A (p.Thr84Asn)
NM_000290.4(PGAM2):c.251C>G (p.Thr84Ser)
NM_000290.4(PGAM2):c.257G>A (p.Arg86His)

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