ClinVar Miner

List of variants studied for Neuronopathy, distal hereditary motor, type 2A

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_014365.3(HSPB8):c.*644A>G rs11038 0.34575
NM_014365.3(HSPB8):c.*684G>A rs1133026 0.16667
NM_014365.3(HSPB8):c.582C>T (p.Thr194=) rs4628742 0.07010
NM_014365.3(HSPB8):c.*440C>G rs13378054 0.03707
NM_014365.3(HSPB8):c.402T>C (p.Ile134=) rs56323028 0.03035
NM_014365.3(HSPB8):c.-193T>C rs11549401 0.02683
NM_014365.3(HSPB8):c.552C>T (p.Asn184=) rs112052602 0.01515
NM_014365.3(HSPB8):c.*581G>A rs56754798 0.00641
NM_014365.3(HSPB8):c.535G>C (p.Glu179Gln) rs74740454 0.00531
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.-201G>T rs764259720 0.00046
NM_014365.2(HSPB8):c.-480C>G rs886049024 0.00026
NM_014365.2(HSPB8):c.-457A>G rs564088535 0.00021
NM_014365.3(HSPB8):c.*648A>G rs770364674 0.00021
NM_014365.3(HSPB8):c.*788C>T rs975396136 0.00021
NM_014365.3(HSPB8):c.-314T>C rs754447057 0.00014
NM_014365.3(HSPB8):c.14A>G (p.Gln5Arg) rs146900850 0.00009
NM_014365.3(HSPB8):c.*123G>A rs987225344 0.00007
NM_014365.2(HSPB8):c.-419A>T rs1011802078 0.00006
NM_014365.3(HSPB8):c.*803T>C rs886049029 0.00005
NM_014365.3(HSPB8):c.*330A>T rs1954730443 0.00001
NM_014365.3(HSPB8):c.*67T>G rs886049026 0.00001
NM_014365.3(HSPB8):c.*860T>C rs1223485106 0.00001
NM_014365.3(HSPB8):c.-172G>C rs886049025 0.00001
NM_014365.3(HSPB8):c.163C>T (p.Arg55Cys) rs1011669872 0.00001
NM_014365.3(HSPB8):c.269C>T (p.Pro90Leu) rs1565927080 0.00001
NM_014365.2(HSPB8):c.-489G>A rs886049023
NM_014365.2(HSPB8):c.-522C>G rs981936850
NM_014365.3(HSPB8):c.*504T>C rs886049027
NM_014365.3(HSPB8):c.*616C>G rs6413487
NM_014365.3(HSPB8):c.*616C>T rs6413487
NM_014365.3(HSPB8):c.266C>G (p.Pro89Arg) rs35909818
NM_014365.3(HSPB8):c.403G>C (p.Val135Leu) rs917644809
NM_014365.3(HSPB8):c.413A>C (p.Asn138Thr) rs1565929080
NM_014365.3(HSPB8):c.421A>G (p.Lys141Glu) rs104894351
NM_014365.3(HSPB8):c.423G>C (p.Lys141Asn) rs104894345
NM_014365.3(HSPB8):c.432-10T>A rs368810689
NM_014365.3(HSPB8):c.48G>A (p.Leu16=) rs755586270
NM_014365.3(HSPB8):c.562del (p.Gln188fs) rs1954727678

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