ClinVar Miner

List of variants in gene DNM1 studied for Inborn genetic diseases

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_004408.4(DNM1):c.1008C>T (p.Phe336=) rs3003609 0.41986
NM_004408.4(DNM1):c.1062C>T (p.Tyr354=) rs35048348 0.08186
NM_004408.4(DNM1):c.1764C>T (p.Leu588=) rs111534551 0.00186
NM_004408.4(DNM1):c.747C>T (p.Thr249=) rs141651183 0.00086
NM_004408.4(DNM1):c.1707C>T (p.Asn569=) rs145318071 0.00039
NM_004408.4(DNM1):c.1437C>T (p.Ile479=) rs141788807 0.00036
NM_004408.4(DNM1):c.2582C>A (p.Pro861His) rs187315526 0.00022
NM_004408.4(DNM1):c.1386C>T (p.Thr462=) rs372666180 0.00020
NM_004408.4(DNM1):c.1586A>G (p.Asn529Ser) rs150040014 0.00019
NM_004408.4(DNM1):c.849+6C>T rs527412689 0.00013
NM_004408.4(DNM1):c.1200G>A (p.Thr400=) rs373198034 0.00009
NM_004408.4(DNM1):c.1315G>A (p.Val439Ile) rs771062230 0.00009
NM_004408.4(DNM1):c.2541G>A (p.Ser847=) rs545142847 0.00007
NM_004408.4(DNM1):c.796C>T (p.Arg266Cys) rs138053929 0.00006
NM_004408.4(DNM1):c.1161G>A (p.Glu387=) rs998519750 0.00002
NM_004408.4(DNM1):c.1617G>A (p.Lys539=) rs908450540 0.00002
NM_004408.4(DNM1):c.702G>A (p.Val234=) rs754094661 0.00002
NM_004408.4(DNM1):c.1116C>T (p.Phe372=) rs367584321 0.00001
NM_004408.4(DNM1):c.1356A>G (p.Leu452=) rs756954152 0.00001
NM_004408.4(DNM1):c.1399C>T (p.Arg467Cys) rs769485700 0.00001
NM_004408.4(DNM1):c.1558-3C>T rs546517702 0.00001
NM_004408.4(DNM1):c.2113C>T (p.Leu705=) rs752228958 0.00001
NM_004408.4(DNM1):c.2178C>A (p.Asp726Glu) rs745835138 0.00001
NM_004408.4(DNM1):c.2560C>T (p.Arg854Cys) rs757501966 0.00001
NM_004408.4(DNM1):c.2561G>A (p.Arg854His) rs781345149 0.00001
NM_004408.4(DNM1):c.633C>T (p.Asp211=) rs1043525791 0.00001
NM_004408.4(DNM1):c.822G>A (p.Thr274=) rs765410948 0.00001
NM_004408.4(DNM1):c.1013T>C (p.Val338Ala)
NM_004408.4(DNM1):c.1023G>A (p.Glu341=)
NM_004408.4(DNM1):c.1028G>T (p.Arg343Leu)
NM_004408.4(DNM1):c.1042G>A (p.Gly348Arg)
NM_004408.4(DNM1):c.1075G>A (p.Gly359Arg) rs1554774587
NM_004408.4(DNM1):c.1190G>A (p.Gly397Asp) rs1554774708
NM_004408.4(DNM1):c.1610G>A (p.Gly537Asp) rs1554781552
NM_004408.4(DNM1):c.1769A>G (p.Asn590Ser)
NM_004408.4(DNM1):c.1781+4C>A
NM_004408.4(DNM1):c.1801C>T (p.Arg601Trp)
NM_004408.4(DNM1):c.1899A>G (p.Lys633=)
NM_004408.4(DNM1):c.2144T>C (p.Met715Thr)
NM_004408.4(DNM1):c.2232C>T (p.Asp744=) rs1315817571
NM_004408.4(DNM1):c.2531C>G (p.Pro844Arg) rs1564355393
NM_004408.4(DNM1):c.2535-2A>G rs1564358627
NM_004408.4(DNM1):c.636G>A (p.Glu212=) rs766735683
NM_004408.4(DNM1):c.676C>T (p.Pro226Ser)
NM_004408.4(DNM1):c.709C>T (p.Arg237Trp) rs760270633
NM_004408.4(DNM1):c.713G>T (p.Ser238Ile) rs1554773487
NM_004408.4(DNM1):c.792T>A (p.Ser264=)
NM_004408.4(DNM1):c.811C>T (p.Arg271Cys) rs1834865373
NM_004408.4(DNM1):c.919A>G (p.Ile307Val)

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