ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease axonal type 2F by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 61
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HGVS dbSNP
NC_000007.13:g.(?_75931813)_(75933510_?)dup
NC_000007.14:g.(?_76301442)_(76304183_?)dup
NM_001540.5(HSPB1):c.127T>C (p.Ser43Pro)
NM_001540.5(HSPB1):c.139G>A (p.Gly47Ser) rs778311776
NM_001540.5(HSPB1):c.149G>T (p.Ser50Ile)
NM_001540.5(HSPB1):c.169C>T (p.Pro57Ser)
NM_001540.5(HSPB1):c.172del (p.Leu58fs)
NM_001540.5(HSPB1):c.17T>C (p.Val6Ala) rs773864816
NM_001540.5(HSPB1):c.184G>C (p.Ala62Pro)
NM_001540.5(HSPB1):c.190G>A (p.Glu64Lys)
NM_001540.5(HSPB1):c.192G>C (p.Glu64Asp)
NM_001540.5(HSPB1):c.1A>C (p.Met1Leu)
NM_001540.5(HSPB1):c.202G>C (p.Val68Leu) rs757158514
NM_001540.5(HSPB1):c.20C>G (p.Pro7Arg) rs1405359814
NM_001540.5(HSPB1):c.229C>T (p.Leu77Phe) rs1231796327
NM_001540.5(HSPB1):c.233_234delinsTT (p.Ser78Ile)
NM_001540.5(HSPB1):c.236G>A (p.Arg79Gln)
NM_001540.5(HSPB1):c.248_249delinsAT (p.Ser83Asn) rs1563651975
NM_001540.5(HSPB1):c.250G>T (p.Gly84Trp)
NM_001540.5(HSPB1):c.251G>A (p.Gly84Glu)
NM_001540.5(HSPB1):c.257C>T (p.Ser86Leu) rs749378020
NM_001540.5(HSPB1):c.264C>G (p.Ile88Met)
NM_001540.5(HSPB1):c.266G>A (p.Arg89Gln) rs1060503022
NM_001540.5(HSPB1):c.280C>A (p.Arg94Ser)
NM_001540.5(HSPB1):c.281G>A (p.Arg94His)
NM_001540.5(HSPB1):c.286C>A (p.Arg96Ser) rs761660005
NM_001540.5(HSPB1):c.29T>A (p.Leu10His) rs772216758
NM_001540.5(HSPB1):c.305A>G (p.Asn102Ser)
NM_001540.5(HSPB1):c.305A>T (p.Asn102Ile) rs765142574
NM_001540.5(HSPB1):c.340A>C (p.Lys114Gln)
NM_001540.5(HSPB1):c.364+6C>G rs753061670
NM_001540.5(HSPB1):c.364G>A (p.Gly122Ser) rs780988351
NM_001540.5(HSPB1):c.369G>C (p.Lys123Asn) rs755233365
NM_001540.5(HSPB1):c.372C>G (p.His124Gln) rs145243219
NM_001540.5(HSPB1):c.373_375GAG[1] (p.Glu126del) rs1554614633
NM_001540.5(HSPB1):c.379C>A (p.Arg127=)
NM_001540.5(HSPB1):c.37G>A (p.Gly13Ser) rs1475184454
NM_001540.5(HSPB1):c.380G>A (p.Arg127Gln) rs587781250
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) rs558882005
NM_001540.5(HSPB1):c.398A>G (p.Tyr133Cys) rs1583966042
NM_001540.5(HSPB1):c.3G>A (p.Met1Ile)
NM_001540.5(HSPB1):c.403T>G (p.Ser135Ala) rs766728475
NM_001540.5(HSPB1):c.425A>G (p.Tyr142Cys)
NM_001540.5(HSPB1):c.428+5G>C
NM_001540.5(HSPB1):c.428C>A (p.Thr143Lys) rs748414486
NM_001540.5(HSPB1):c.451A>C (p.Thr151Pro) rs771232749
NM_001540.5(HSPB1):c.538A>C (p.Thr180Pro)
NM_001540.5(HSPB1):c.539C>G (p.Thr180Ser) rs1422978230
NM_001540.5(HSPB1):c.544C>A (p.Pro182Thr)
NM_001540.5(HSPB1):c.551C>T (p.Thr184Ile)
NM_001540.5(HSPB1):c.554T>C (p.Phe185Ser) rs777225392
NM_001540.5(HSPB1):c.565G>A (p.Ala189Thr)
NM_001540.5(HSPB1):c.572_584del (p.Leu191fs) rs771457306
NM_001540.5(HSPB1):c.598G>A (p.Asp200Asn)
NM_001540.5(HSPB1):c.607_609GCC[1] (p.Ala204del) rs1276065076
NM_001540.5(HSPB1):c.609dup (p.Ala204fs)
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr) rs367857772
NM_001540.5(HSPB1):c.610G>T (p.Ala204Ser) rs367857772
NM_001540.5(HSPB1):c.615G>T (p.Lys205Asn)
NM_001540.5(HSPB1):c.80G>T (p.Arg27Leu) rs367662394
NM_001540.5(HSPB1):c.89A>C (p.Asp30Ala)

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