ClinVar Miner

List of variants in gene combination DM1, DMPK, LOC107075317, LOC109461477 reported as pathogenic by Institute of Molecular, Cell and Systems Biology, University of Glasgow

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 143
Download table as spreadsheet
HGVS dbSNP
NM_004409.4(DMPK):c.*224CTG[146]
NM_004409.4(DMPK):c.*224CTG[1502]
NM_004409.4(DMPK):c.*224CTG[1681]
NM_004409.4(DMPK):c.*224CTG[80]
NM_004409.5(DMPK):c.*224_*226CTG[102]
NM_004409.5(DMPK):c.*224_*226CTG[103]
NM_004409.5(DMPK):c.*224_*226CTG[105]
NM_004409.5(DMPK):c.*224_*226CTG[107]
NM_004409.5(DMPK):c.*224_*226CTG[1080]
NM_004409.5(DMPK):c.*224_*226CTG[1140]
NM_004409.5(DMPK):c.*224_*226CTG[1142]
NM_004409.5(DMPK):c.*224_*226CTG[1189]
NM_004409.5(DMPK):c.*224_*226CTG[122]
NM_004409.5(DMPK):c.*224_*226CTG[1236]
NM_004409.5(DMPK):c.*224_*226CTG[123]
NM_004409.5(DMPK):c.*224_*226CTG[124]
NM_004409.5(DMPK):c.*224_*226CTG[127]
NM_004409.5(DMPK):c.*224_*226CTG[131]
NM_004409.5(DMPK):c.*224_*226CTG[132]
NM_004409.5(DMPK):c.*224_*226CTG[134]
NM_004409.5(DMPK):c.*224_*226CTG[135]
NM_004409.5(DMPK):c.*224_*226CTG[142]
NM_004409.5(DMPK):c.*224_*226CTG[158]
NM_004409.5(DMPK):c.*224_*226CTG[160]
NM_004409.5(DMPK):c.*224_*226CTG[168]
NM_004409.5(DMPK):c.*224_*226CTG[169]
NM_004409.5(DMPK):c.*224_*226CTG[175]
NM_004409.5(DMPK):c.*224_*226CTG[181]
NM_004409.5(DMPK):c.*224_*226CTG[182]
NM_004409.5(DMPK):c.*224_*226CTG[194]
NM_004409.5(DMPK):c.*224_*226CTG[195]
NM_004409.5(DMPK):c.*224_*226CTG[197]
NM_004409.5(DMPK):c.*224_*226CTG[214]
NM_004409.5(DMPK):c.*224_*226CTG[216]
NM_004409.5(DMPK):c.*224_*226CTG[225]
NM_004409.5(DMPK):c.*224_*226CTG[229]
NM_004409.5(DMPK):c.*224_*226CTG[232]
NM_004409.5(DMPK):c.*224_*226CTG[235]
NM_004409.5(DMPK):c.*224_*226CTG[236]
NM_004409.5(DMPK):c.*224_*226CTG[238]
NM_004409.5(DMPK):c.*224_*226CTG[241]
NM_004409.5(DMPK):c.*224_*226CTG[255]
NM_004409.5(DMPK):c.*224_*226CTG[256]
NM_004409.5(DMPK):c.*224_*226CTG[260]
NM_004409.5(DMPK):c.*224_*226CTG[261]
NM_004409.5(DMPK):c.*224_*226CTG[264]
NM_004409.5(DMPK):c.*224_*226CTG[265]
NM_004409.5(DMPK):c.*224_*226CTG[271]
NM_004409.5(DMPK):c.*224_*226CTG[281]
NM_004409.5(DMPK):c.*224_*226CTG[288]
NM_004409.5(DMPK):c.*224_*226CTG[303]
NM_004409.5(DMPK):c.*224_*226CTG[307]
NM_004409.5(DMPK):c.*224_*226CTG[313]
NM_004409.5(DMPK):c.*224_*226CTG[318]
NM_004409.5(DMPK):c.*224_*226CTG[327]
NM_004409.5(DMPK):c.*224_*226CTG[333]
NM_004409.5(DMPK):c.*224_*226CTG[339]
NM_004409.5(DMPK):c.*224_*226CTG[345]
NM_004409.5(DMPK):c.*224_*226CTG[347]
NM_004409.5(DMPK):c.*224_*226CTG[351]
NM_004409.5(DMPK):c.*224_*226CTG[352]
NM_004409.5(DMPK):c.*224_*226CTG[353]
NM_004409.5(DMPK):c.*224_*226CTG[354]
NM_004409.5(DMPK):c.*224_*226CTG[364]
NM_004409.5(DMPK):c.*224_*226CTG[371]
NM_004409.5(DMPK):c.*224_*226CTG[372]
NM_004409.5(DMPK):c.*224_*226CTG[373]
NM_004409.5(DMPK):c.*224_*226CTG[375]
NM_004409.5(DMPK):c.*224_*226CTG[376]
NM_004409.5(DMPK):c.*224_*226CTG[377]
NM_004409.5(DMPK):c.*224_*226CTG[383]
NM_004409.5(DMPK):c.*224_*226CTG[391]
NM_004409.5(DMPK):c.*224_*226CTG[395]
NM_004409.5(DMPK):c.*224_*226CTG[397]
NM_004409.5(DMPK):c.*224_*226CTG[398]
NM_004409.5(DMPK):c.*224_*226CTG[407]
NM_004409.5(DMPK):c.*224_*226CTG[421]
NM_004409.5(DMPK):c.*224_*226CTG[435]
NM_004409.5(DMPK):c.*224_*226CTG[436]
NM_004409.5(DMPK):c.*224_*226CTG[437]
NM_004409.5(DMPK):c.*224_*226CTG[440]
NM_004409.5(DMPK):c.*224_*226CTG[448]
NM_004409.5(DMPK):c.*224_*226CTG[449]
NM_004409.5(DMPK):c.*224_*226CTG[455]
NM_004409.5(DMPK):c.*224_*226CTG[461]
NM_004409.5(DMPK):c.*224_*226CTG[462]
NM_004409.5(DMPK):c.*224_*226CTG[46]
NM_004409.5(DMPK):c.*224_*226CTG[482]
NM_004409.5(DMPK):c.*224_*226CTG[490]
NM_004409.5(DMPK):c.*224_*226CTG[496]
NM_004409.5(DMPK):c.*224_*226CTG[501]
NM_004409.5(DMPK):c.*224_*226CTG[505]
NM_004409.5(DMPK):c.*224_*226CTG[508]
NM_004409.5(DMPK):c.*224_*226CTG[50]
NM_004409.5(DMPK):c.*224_*226CTG[513]
NM_004409.5(DMPK):c.*224_*226CTG[52]
NM_004409.5(DMPK):c.*224_*226CTG[536]
NM_004409.5(DMPK):c.*224_*226CTG[539]
NM_004409.5(DMPK):c.*224_*226CTG[53]
NM_004409.5(DMPK):c.*224_*226CTG[541]
NM_004409.5(DMPK):c.*224_*226CTG[542]
NM_004409.5(DMPK):c.*224_*226CTG[54]
NM_004409.5(DMPK):c.*224_*226CTG[562]
NM_004409.5(DMPK):c.*224_*226CTG[563]
NM_004409.5(DMPK):c.*224_*226CTG[56]
NM_004409.5(DMPK):c.*224_*226CTG[583]
NM_004409.5(DMPK):c.*224_*226CTG[586]
NM_004409.5(DMPK):c.*224_*226CTG[593]
NM_004409.5(DMPK):c.*224_*226CTG[594]
NM_004409.5(DMPK):c.*224_*226CTG[597]
NM_004409.5(DMPK):c.*224_*226CTG[59]
NM_004409.5(DMPK):c.*224_*226CTG[609]
NM_004409.5(DMPK):c.*224_*226CTG[60]
NM_004409.5(DMPK):c.*224_*226CTG[614]
NM_004409.5(DMPK):c.*224_*226CTG[62]
NM_004409.5(DMPK):c.*224_*226CTG[640]
NM_004409.5(DMPK):c.*224_*226CTG[64]
NM_004409.5(DMPK):c.*224_*226CTG[65]
NM_004409.5(DMPK):c.*224_*226CTG[666]
NM_004409.5(DMPK):c.*224_*226CTG[688]
NM_004409.5(DMPK):c.*224_*226CTG[68]
NM_004409.5(DMPK):c.*224_*226CTG[69]
NM_004409.5(DMPK):c.*224_*226CTG[71]
NM_004409.5(DMPK):c.*224_*226CTG[721]
NM_004409.5(DMPK):c.*224_*226CTG[72]
NM_004409.5(DMPK):c.*224_*226CTG[74]
NM_004409.5(DMPK):c.*224_*226CTG[758]
NM_004409.5(DMPK):c.*224_*226CTG[75]
NM_004409.5(DMPK):c.*224_*226CTG[76]
NM_004409.5(DMPK):c.*224_*226CTG[780]
NM_004409.5(DMPK):c.*224_*226CTG[814]
NM_004409.5(DMPK):c.*224_*226CTG[816]
NM_004409.5(DMPK):c.*224_*226CTG[823]
NM_004409.5(DMPK):c.*224_*226CTG[82]
NM_004409.5(DMPK):c.*224_*226CTG[83]
NM_004409.5(DMPK):c.*224_*226CTG[84]
NM_004409.5(DMPK):c.*224_*226CTG[887]
NM_004409.5(DMPK):c.*224_*226CTG[88]
NM_004409.5(DMPK):c.*224_*226CTG[90]
NM_004409.5(DMPK):c.*224_*226CTG[92]
NM_004409.5(DMPK):c.*224_*226CTG[93]
NM_004409.5(DMPK):c.*224_*226CTG[96]
NM_004409.5(DMPK):c.*224_*226CTG[98]

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