ClinVar Miner

List of variants in gene DMPK studied for myotonic dystrophy type 1

Included ClinVar conditions (1):
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_004409.5(DMPK):c.581+6T>C rs1799894 0.53545
NC_000019.9:g.46273465GCA[(49_?)]
NC_000019.9:g.46273465GCA[(?_35)]
NM_004409.4:c.*224CTG[173_283]CCG[1]CTG[8]CCG[2]CTG[2]CCG[1]CTG[4]CCG[1]CTG[30]
NM_004409.4:c.*224_*283CTG[(192_602)]CCG[1]CTG[8]CCG[2]CTG[2]CCG[1]CTG[4]CCG[1]CTG[30]
NM_004409.4:c.*224_*283CTG[(271_852)]CCG[1]CTG[17]CCG[1]CTG[29]
NM_004409.4:c.*224_*283CTG[(510_860)]CCG[1]CTG[1]CCG[1]CTG[1]CCG[1]CTG[2]CCG[3]CTG[1]CCG[1]CTG[4]CCG[1]CTG[1]CCG[1]CTG[18]
NM_004409.4:c.*224_*283CTG[329]NNN[(?)]CCG[1]CTG[1]CCG[1]CTG[1]CCG[1]CTG[4]CCG[1]CTG[1]CCG[1]CTG[1]CCG[1]CTG[4]CCG[1]CTG[1]CCG[1]CTG[18]
NM_004409.5(DMPK):c.1178C>T (p.Pro393Leu)
NM_004409.5(DMPK):c.161-131G>T
NM_004409.5(DMPK):c.395C>G (p.Thr132Arg) rs1600444823
NM_004409.5(DMPK):c.628C>T (p.Arg210Cys)
NM_004409.5(DMPK):c.931C>T (p.Arg311Ter) rs762280354
NM_004409.5(DMPK):c.983G>A (p.Gly328Asp)

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