ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease axonal type 2L

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_014365.3(HSPB8):c.499G>A (p.Glu167Lys) rs148514935 0.00071
NM_014365.3(HSPB8):c.233G>T (p.Arg78Met) rs55826713 0.00058
NM_014365.3(HSPB8):c.503C>T (p.Ala168Val) rs373049356 0.00011
NM_014365.3(HSPB8):c.354C>T (p.Tyr118=) rs374476577 0.00005
NM_014365.3(HSPB8):c.93G>C (p.Leu31=) rs147945133 0.00004
NM_014365.3(HSPB8):c.255C>T (p.Gly85=) rs535698657 0.00003
NM_014365.3(HSPB8):c.431+19T>C rs549655856 0.00003
NM_014365.3(HSPB8):c.432-15G>A rs771637294 0.00003
NM_014365.3(HSPB8):c.534A>G (p.Gly178=) rs756610498 0.00003
NM_014365.3(HSPB8):c.553G>A (p.Glu185Lys) rs774648716 0.00003
NM_014365.3(HSPB8):c.147C>T (p.Pro49=) rs371236491 0.00002
NM_014365.3(HSPB8):c.193A>C (p.Arg65=) rs778903217 0.00002
NM_014365.3(HSPB8):c.228C>T (p.Thr76=) rs764660116 0.00002
NM_014365.3(HSPB8):c.431+15G>A rs777180667 0.00002
NM_014365.3(HSPB8):c.174C>T (p.Ser58=) rs56046128 0.00001
NM_014365.3(HSPB8):c.198G>A (p.Ser66=) rs1041884451 0.00001
NM_014365.3(HSPB8):c.249C>T (p.Ala83=) rs1173959362 0.00001
NM_014365.3(HSPB8):c.264C>A (p.Pro88=) rs746791744 0.00001
NM_014365.3(HSPB8):c.273C>T (p.Phe91=) rs540697245 0.00001
NM_014365.3(HSPB8):c.309C>T (p.His103=) rs1401613594 0.00001
NM_014365.3(HSPB8):c.312C>T (p.Ser104=) rs2500034885 0.00001
NM_014365.3(HSPB8):c.357G>A (p.Val119=) rs1196313978 0.00001
NM_014365.3(HSPB8):c.367+18G>A rs894486848 0.00001
NM_014365.3(HSPB8):c.375T>C (p.His125=) rs923916572 0.00001
NM_014365.3(HSPB8):c.483G>A (p.Glu161=) rs1481334800 0.00001
NM_014365.3(HSPB8):c.498C>T (p.Ile166=) rs1300830983 0.00001
NM_014365.3(HSPB8):c.81C>T (p.Ser27=) rs1954620581 0.00001
NM_014365.3(HSPB8):c.87C>A (p.Arg29=) rs773298891 0.00001
NM_014365.3(HSPB8):c.88C>T (p.Leu30=) rs1954620683 0.00001
NM_014365.3(HSPB8):c.126C>T (p.Asp42=)
NM_014365.3(HSPB8):c.147C>G (p.Pro49=) rs371236491
NM_014365.3(HSPB8):c.174C>A (p.Ser58=) rs56046128
NM_014365.3(HSPB8):c.201C>T (p.Gly67=) rs1565927038
NM_014365.3(HSPB8):c.210C>A (p.Pro70=) rs1211866770
NM_014365.3(HSPB8):c.210C>T (p.Pro70=) rs1211866770
NM_014365.3(HSPB8):c.21C>A (p.Pro7=) rs2136079832
NM_014365.3(HSPB8):c.228C>A (p.Thr76=) rs764660116
NM_014365.3(HSPB8):c.243G>A (p.Val81=) rs753025813
NM_014365.3(HSPB8):c.266C>G (p.Pro89Arg) rs35909818
NM_014365.3(HSPB8):c.328T>C (p.Leu110=)
NM_014365.3(HSPB8):c.351A>T (p.Gly117=) rs2500034940
NM_014365.3(HSPB8):c.360G>A (p.Glu120=)
NM_014365.3(HSPB8):c.367+10G>T
NM_014365.3(HSPB8):c.367+12G>C
NM_014365.3(HSPB8):c.372A>G (p.Lys124=) rs1954680412
NM_014365.3(HSPB8):c.39A>G (p.Pro13=) rs1036726530
NM_014365.3(HSPB8):c.431+14A>C rs375483506
NM_014365.3(HSPB8):c.431+14A>T rs375483506
NM_014365.3(HSPB8):c.431+8A>G rs2500043559
NM_014365.3(HSPB8):c.431+9C>T
NM_014365.3(HSPB8):c.432-10T>A rs368810689
NM_014365.3(HSPB8):c.432-10T>C rs368810689
NM_014365.3(HSPB8):c.432-8T>C rs1954726151
NM_014365.3(HSPB8):c.45C>T (p.Arg15=) rs1565926943
NM_014365.3(HSPB8):c.48G>A (p.Leu16=) rs755586270
NM_014365.3(HSPB8):c.492G>A (p.Leu164=)
NM_014365.3(HSPB8):c.501A>G (p.Glu167=) rs2500054670
NM_014365.3(HSPB8):c.51C>T (p.Arg17=) rs2500034410
NM_014365.3(HSPB8):c.549C>T (p.Asn183=) rs2136086376

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