ClinVar Miner

List of variants in gene DNM2 reported as uncertain significance for Charcot-Marie-Tooth disease

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 105
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HGVS dbSNP
NM_001005360.2(DNM2):c.1010G>T (p.Gly337Val)
NM_001005360.2(DNM2):c.1051G>A (p.Val351Met) rs876661176
NM_001005360.2(DNM2):c.1273C>A (p.Leu425Met) rs879253980
NM_001005360.2(DNM2):c.1304T>G (p.Leu435Arg) rs1555710681
NM_001005360.2(DNM2):c.1322A>G (p.Gln441Arg)
NM_001005360.2(DNM2):c.1335+1G>A
NM_001005360.2(DNM2):c.1358G>A (p.Arg453Gln)
NM_001005360.2(DNM2):c.1372C>G (p.Arg458Gly)
NM_001005360.2(DNM2):c.1384A>G (p.Thr462Ala) rs201575500
NM_001005360.2(DNM2):c.1456A>G (p.Ile486Val) rs758246840
NM_001005360.2(DNM2):c.1526A>G (p.Lys509Arg) rs1555712608
NM_001005360.2(DNM2):c.1552A>G (p.Ile518Val) rs753402698
NM_001005360.2(DNM2):c.1594A>G (p.Ser532Gly)
NM_001005360.2(DNM2):c.1609G>T (p.Gly537Cys) rs121909093
NM_001005360.2(DNM2):c.1616A>T (p.Lys539Met) rs1568314284
NM_001005360.2(DNM2):c.1641C>A (p.Ala547=) rs538253489
NM_001005360.2(DNM2):c.1664_1671+1delATGAGGAGG rs1568314339
NM_001005360.2(DNM2):c.1671+3G>C
NM_001005360.2(DNM2):c.1675_1677del (p.Lys559del)
NM_001005360.2(DNM2):c.1681_1683AAG[1] (p.Lys562del)
NM_001005360.2(DNM2):c.1684A>G (p.Lys562Glu) rs121909088
NM_001005360.2(DNM2):c.1709T>A (p.Leu570His) rs121909094
NM_001005360.2(DNM2):c.1718G>A (p.Arg573His) rs1555715216
NM_001005360.2(DNM2):c.1731G>C (p.Lys577Asn)
NM_001005360.2(DNM2):c.1739T>C (p.Met580Thr)
NM_001005360.2(DNM2):c.1772C>T (p.Thr591Met) rs372876881
NM_001005360.2(DNM2):c.1773G>A (p.Thr591=) rs201604679
NM_001005360.2(DNM2):c.177C>A (p.Arg59=) rs762795230
NM_001005360.2(DNM2):c.1781+6G>T rs1568318838
NM_001005360.2(DNM2):c.1782-4G>C rs767424969
NM_001005360.2(DNM2):c.1782-7C>A rs200843089
NM_001005360.2(DNM2):c.1852G>T (p.Ala618Ser)
NM_001005360.2(DNM2):c.1858T>C (p.Phe620Leu)
NM_001005360.2(DNM2):c.1952G>A (p.Arg651Gln) rs1568321851
NM_001005360.2(DNM2):c.1969C>T (p.Arg657Cys) rs772920450
NM_001005360.2(DNM2):c.197G>A (p.Arg66Gln) rs1568283807
NM_001005360.2(DNM2):c.200G>A (p.Arg67Gln)
NM_001005360.2(DNM2):c.2011A>G (p.Ile671Val) rs1568321953
NM_001005360.2(DNM2):c.2023A>G (p.Met675Val) rs1555716140
NM_001005360.2(DNM2):c.2041C>A (p.His681Asn) rs1437296623
NM_001005360.2(DNM2):c.2100_2102CTC[1] (p.Ser702del)
NM_001005360.2(DNM2):c.2105C>T (p.Ser702Leu)
NM_001005360.2(DNM2):c.2144A>G (p.Gln715Arg)
NM_001005360.2(DNM2):c.2179C>T (p.His727Tyr) rs142963320
NM_001005360.2(DNM2):c.2197C>T (p.Leu733Phe) rs1568324227
NM_001005360.2(DNM2):c.2231T>C (p.Val744Ala) rs777609224
NM_001005360.2(DNM2):c.2233T>A (p.Ser745Thr) rs1568324267
NM_001005360.2(DNM2):c.2264C>A (p.Thr755Asn)
NM_001005360.2(DNM2):c.2276G>A (p.Ser759Asn) rs879254300
NM_001005360.2(DNM2):c.2286C>A (p.Ser762Arg) rs1568324385
NM_001005360.2(DNM2):c.2291+4C>T
NM_001005360.2(DNM2):c.2292C>T (p.Ser764=)
NM_001005360.2(DNM2):c.2305C>T (p.Arg769Cys)
NM_001005360.2(DNM2):c.2308C>T (p.Arg770Ter)
NM_001005360.2(DNM2):c.2356G>T (p.Gly786Cys) rs1555717200
NM_001005360.2(DNM2):c.2372C>A (p.Pro791His)
NM_001005360.2(DNM2):c.2411_2413del (p.Phe804del) rs752014734
NM_001005360.2(DNM2):c.2435G>A (p.Arg812Gln)
NM_001005360.2(DNM2):c.2443C>T (p.Pro815Ser)
NM_001005360.2(DNM2):c.2451C>T (p.Ser817=)
NM_001005360.2(DNM2):c.2452G>A (p.Val818Met) rs755608537
NM_001005360.2(DNM2):c.2479G>A (p.Ala827Thr)
NM_001005360.2(DNM2):c.2497T>C (p.Ser833Pro) rs1253864930
NM_001005360.2(DNM2):c.2531C>T (p.Pro844Leu) rs1398139585
NM_001005360.2(DNM2):c.2544_2546delCAG rs1568325729
NM_001005360.2(DNM2):c.2573_2575CCA[1] (p.Thr859del)
NM_001005360.2(DNM2):c.2607C>A (p.Leu869=)
NM_001005360.2(DNM2):c.266A>G (p.Lys89Arg)
NM_001005360.2(DNM2):c.292C>T (p.Arg98Trp)
NM_001005360.2(DNM2):c.31C>T (p.Pro11Ser)
NM_001005360.2(DNM2):c.345C>G (p.Ile115Met)
NM_001005360.2(DNM2):c.384C>T (p.His128=)
NM_001005360.2(DNM2):c.439G>A (p.Asp147Asn)
NM_001005360.2(DNM2):c.481C>A (p.Leu161Met) rs1060503547
NM_001005360.2(DNM2):c.497G>A (p.Arg166Gln)
NM_001005360.2(DNM2):c.535A>G (p.Met179Val)
NM_001005360.2(DNM2):c.596G>A (p.Arg199Gln) rs1568294706
NM_001005360.2(DNM2):c.636G>T (p.Glu212Asp)
NM_001005360.2(DNM2):c.637G>T (p.Gly213Cys)
NM_001005360.2(DNM2):c.645C>A (p.Asp215Glu)
NM_001005360.2(DNM2):c.655G>A (p.Val219Ile)
NM_001005360.2(DNM2):c.689-3C>T rs373330742
NM_001005360.2(DNM2):c.695T>A (p.Ile232Asn) rs749672066
NM_001005360.2(DNM2):c.695T>C (p.Ile232Thr)
NM_001005360.2(DNM2):c.699C>T (p.Gly233=) rs751844947
NM_001005360.2(DNM2):c.700G>C (p.Val234Leu) rs377159042
NM_001005360.2(DNM2):c.758C>T (p.Ala253Val)
NM_001005360.2(DNM2):c.778C>G (p.Leu260Val)
NM_001005360.2(DNM2):c.797G>A (p.Arg266Gln)
NM_001005360.2(DNM2):c.800A>G (p.His267Arg) rs1412618988
NM_001005360.2(DNM2):c.811C>T (p.Arg271Cys)
NM_001005360.2(DNM2):c.812G>A (p.Arg271His)
NM_001005360.2(DNM2):c.819C>T (p.Gly273=) rs1464745378
NM_001005360.2(DNM2):c.821C>T (p.Thr274Met) rs746387165
NM_001005360.2(DNM2):c.839C>T (p.Thr280Met) rs202155679
NM_001005360.2(DNM2):c.83A>T (p.His28Leu) rs774962668
NM_001005360.2(DNM2):c.850-7C>G rs778548382
NM_001005360.2(DNM2):c.868C>G (p.Arg290Gly)
NM_001005360.2(DNM2):c.868C>T (p.Arg290Trp) rs587778235
NM_001005360.2(DNM2):c.889C>T (p.Arg297Cys) rs760254039
NM_001005360.2(DNM2):c.890G>A (p.Arg297His) rs763894364
NM_001005360.2(DNM2):c.8A>G (p.Asn3Ser) rs890297188
NM_001005360.2(DNM2):c.934G>A (p.Glu312Lys) rs370636702
NM_001005360.2(DNM2):c.958G>A (p.Asp320Asn) rs150613209
NM_001005360.2(DNM2):c.992+4T>C rs1225723240

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