ClinVar Miner

List of variants in gene DNM2, LOC130063529 studied for Charcot-Marie-Tooth disease dominant intermediate B

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001005361.3(DNM2):c.102C>A (p.Ile34=) rs552741402 0.00006
NM_001005361.3(DNM2):c.90C>T (p.Asp30=) rs759919549 0.00006
NM_001005361.3(DNM2):c.-116C>T rs966672075 0.00004
NM_001005361.3(DNM2):c.8A>G (p.Asn3Ser) rs890297188 0.00003
NM_001005361.3(DNM2):c.149A>G (p.Asn50Ser) rs757121012 0.00002
NM_001005361.3(DNM2):c.5G>A (p.Gly2Asp) rs1375606719 0.00002
NM_001005361.3(DNM2):c.-153G>T rs886054138 0.00001
NM_001005361.3(DNM2):c.10C>T (p.Arg4Cys) rs1202955393 0.00001
NM_001005361.3(DNM2):c.126C>T (p.Ala42=) rs1425173670 0.00001
NM_001005361.3(DNM2):c.20A>G (p.Glu7Gly) rs1435133623 0.00001
NM_001005361.3(DNM2):c.30C>T (p.Ile10=) rs1249596675 0.00001
NM_001005361.3(DNM2):c.31C>T (p.Pro11Ser) rs1014814501 0.00001
NM_001005361.3(DNM2):c.33G>A (p.Pro11=) rs779502758 0.00001
NM_001005361.3(DNM2):c.57C>T (p.Ala19=) rs1599402522 0.00001
NM_001005361.3(DNM2):c.63C>T (p.Ser21=) rs763443182 0.00001
NM_001005361.3(DNM2):c.81C>T (p.Cys27=) rs534605878 0.00001
NM_001005361.3(DNM2):c.83A>T (p.His28Leu) rs774962668 0.00001
NM_001005361.3(DNM2):c.88G>A (p.Asp30Asn) rs1344949726 0.00001
NM_001005361.3(DNM2):c.-122G>A rs886054139
NM_001005361.3(DNM2):c.-19G>T rs753599004
NM_001005361.3(DNM2):c.-23_12del (p.Met1fs) rs2512931088
NM_001005361.3(DNM2):c.102C>G (p.Ile34Met) rs552741402
NM_001005361.3(DNM2):c.104C>T (p.Ala35Val)
NM_001005361.3(DNM2):c.105T>A (p.Ala35=) rs760980172
NM_001005361.3(DNM2):c.109G>T (p.Val37Leu) rs2512931662
NM_001005361.3(DNM2):c.114C>A (p.Gly38=) rs1266406781
NM_001005361.3(DNM2):c.126C>A (p.Ala42=) rs1425173670
NM_001005361.3(DNM2):c.142C>T (p.Leu48=) rs753989925
NM_001005361.3(DNM2):c.160C>G (p.Arg54Gly) rs1295054396
NM_001005361.3(DNM2):c.16A>G (p.Met6Val) rs2068818174
NM_001005361.3(DNM2):c.19G>C (p.Glu7Gln) rs1008731390
NM_001005361.3(DNM2):c.25C>T (p.Leu9=)
NM_001005361.3(DNM2):c.33G>T (p.Pro11=) rs779502758
NM_001005361.3(DNM2):c.37G>A (p.Val13Ile) rs1479865077
NM_001005361.3(DNM2):c.3G>T (p.Met1Ile) rs2512931214
NM_001005361.3(DNM2):c.41A>G (p.Asn14Ser) rs2145637630
NM_001005361.3(DNM2):c.45A>G (p.Lys15=) rs2145637652
NM_001005361.3(DNM2):c.46C>T (p.Leu16=) rs2145637657
NM_001005361.3(DNM2):c.48G>A (p.Leu16=) rs746688611
NM_001005361.3(DNM2):c.54C>A (p.Asp18Glu) rs2068819294
NM_001005361.3(DNM2):c.65C>G (p.Ser22Cys) rs2145637734
NM_001005361.3(DNM2):c.66C>T (p.Ser22=) rs906211174
NM_001005361.3(DNM2):c.69C>A (p.Ile23=) rs1213386129
NM_001005361.3(DNM2):c.70G>A (p.Gly24Ser) rs2512931490
NM_001005361.3(DNM2):c.72C>T (p.Gly24=) rs2068819928
NM_001005361.3(DNM2):c.77G>C (p.Ser26Thr) rs2068819966
NM_001005361.3(DNM2):c.79T>G (p.Cys27Gly) rs2068820028
NM_001005361.3(DNM2):c.90C>G (p.Asp30Glu) rs759919549
NM_001005361.3(DNM2):c.91C>T (p.Leu31=) rs2512931576
NM_001005361.3(DNM2):c.95C>T (p.Pro32Leu) rs2145637847
NM_001005361.3(DNM2):c.96G>T (p.Pro32=) rs767726067
NM_001005361.3(DNM2):c.99G>A (p.Gln33=) rs2512931610

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