ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease axonal type 2L

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 85
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HGVS dbSNP
NC_000012.12:g.119178791C>G
NC_000012.12:g.119178894A>T
NM_014365.2(HSPB8):c.*440C>G rs13378054
NM_014365.2(HSPB8):c.*504T>C rs886049027
NM_014365.2(HSPB8):c.*581G>A rs56754798
NM_014365.2(HSPB8):c.*616C>G rs6413487
NM_014365.2(HSPB8):c.*616C>T rs6413487
NM_014365.2(HSPB8):c.*644A>G rs11038
NM_014365.2(HSPB8):c.*648A>G rs770364674
NM_014365.2(HSPB8):c.*67T>G rs886049026
NM_014365.2(HSPB8):c.*684G>A rs1133026
NM_014365.2(HSPB8):c.*803T>C rs886049029
NM_014365.2(HSPB8):c.-172G>C rs886049025
NM_014365.2(HSPB8):c.-193T>C rs11549401
NM_014365.2(HSPB8):c.-201G>T rs764259720
NM_014365.2(HSPB8):c.-314T>C rs754447057
NM_014365.2(HSPB8):c.-457A>G rs564088535
NM_014365.2(HSPB8):c.-480C>G rs886049024
NM_014365.2(HSPB8):c.-489G>A rs886049023
NM_014365.2(HSPB8):c.116C>T (p.Pro39Leu) rs771827550
NM_014365.2(HSPB8):c.14A>G (p.Gln5Arg) rs146900850
NM_014365.2(HSPB8):c.164G>A (p.Arg55His) rs752911264
NM_014365.2(HSPB8):c.194G>A (p.Arg65Lys) rs1265247622
NM_014365.2(HSPB8):c.200G>T (p.Gly67Val) rs771852827
NM_014365.2(HSPB8):c.201C>T (p.Gly67=) rs1565927038
NM_014365.2(HSPB8):c.208C>T (p.Pro70Ser) rs924785682
NM_014365.2(HSPB8):c.210C>T (p.Pro70=) rs1211866770
NM_014365.2(HSPB8):c.233G>T (p.Arg78Met) rs55826713
NM_014365.2(HSPB8):c.250G>A (p.Glu84Lys) rs757293016
NM_014365.2(HSPB8):c.266C>A (p.Pro89Gln) rs35909818
NM_014365.2(HSPB8):c.266C>G (p.Pro89Arg) rs35909818
NM_014365.2(HSPB8):c.266C>T (p.Pro89Leu) rs35909818
NM_014365.2(HSPB8):c.319C>T (p.Pro107Ser) rs146000958
NM_014365.2(HSPB8):c.402T>C (p.Ile134=) rs56323028
NM_014365.2(HSPB8):c.421A>C (p.Lys141Gln) rs104894351
NM_014365.2(HSPB8):c.421A>G (p.Lys141Glu) rs104894351
NM_014365.2(HSPB8):c.422A>T (p.Lys141Met) rs1565929090
NM_014365.2(HSPB8):c.423G>T (p.Lys141Asn) rs104894345
NM_014365.2(HSPB8):c.432-10T>A rs368810689
NM_014365.2(HSPB8):c.437C>G (p.Pro146Arg) rs1565930539
NM_014365.2(HSPB8):c.472C>T (p.Leu158Phe) rs144662422
NM_014365.2(HSPB8):c.48G>A (p.Leu16=) rs755586270
NM_014365.2(HSPB8):c.499G>A (p.Glu167Lys) rs148514935
NM_014365.2(HSPB8):c.502G>A (p.Ala168Thr) rs1592932884
NM_014365.2(HSPB8):c.503C>T (p.Ala168Val) rs373049356
NM_014365.2(HSPB8):c.512T>C (p.Val171Ala) rs878854979
NM_014365.2(HSPB8):c.523T>G (p.Ser175Ala) rs1000728639
NM_014365.2(HSPB8):c.535G>C (p.Glu179Gln) rs74740454
NM_014365.2(HSPB8):c.536A>G (p.Glu179Gly) rs863224767
NM_014365.2(HSPB8):c.541A>T (p.Ser181Cys) rs760688825
NM_014365.2(HSPB8):c.552C>T (p.Asn184=) rs112052602
NM_014365.2(HSPB8):c.570C>A (p.Ser190Arg) rs551013013
NM_014365.2(HSPB8):c.580A>T (p.Thr194Ser) rs771995241
NM_014365.2(HSPB8):c.582C>T (p.Thr194=) rs4628742
NM_014365.2(HSPB8):c.584G>A (p.Cys195Tyr) rs778223243
NM_014365.2(HSPB8):c.65G>A (p.Arg22Gln) rs747381453
NM_014365.2(HSPB8):c.9C>G (p.Asp3Glu) rs952834680
NM_014365.3(HSPB8):c.*123G>A
NM_014365.3(HSPB8):c.*330A>T
NM_014365.3(HSPB8):c.*788C>T
NM_014365.3(HSPB8):c.*860T>C
NM_014365.3(HSPB8):c.10G>A (p.Gly4Ser)
NM_014365.3(HSPB8):c.114C>A (p.Asp38Glu)
NM_014365.3(HSPB8):c.127G>A (p.Asp43Asn)
NM_014365.3(HSPB8):c.137C>A (p.Ala46Asp)
NM_014365.3(HSPB8):c.140C>G (p.Ser47Cys) rs1183371665
NM_014365.3(HSPB8):c.163C>T (p.Arg55Cys)
NM_014365.3(HSPB8):c.171C>T (p.Ser57=) rs143010542
NM_014365.3(HSPB8):c.174C>A (p.Ser58=)
NM_014365.3(HSPB8):c.184_185del (p.Gly62fs)
NM_014365.3(HSPB8):c.211C>T (p.Arg71Trp)
NM_014365.3(HSPB8):c.229G>A (p.Ala77Thr)
NM_014365.3(HSPB8):c.241G>A (p.Val81Met)
NM_014365.3(HSPB8):c.266dup (p.Pro90fs) rs773017653
NM_014365.3(HSPB8):c.280G>A (p.Glu94Lys)
NM_014365.3(HSPB8):c.311G>A (p.Ser104Asn)
NM_014365.3(HSPB8):c.334del (p.Met111_Val112insTer)
NM_014365.3(HSPB8):c.43C>T (p.Arg15Cys)
NM_014365.3(HSPB8):c.47T>G (p.Leu16Arg)
NM_014365.3(HSPB8):c.515del (p.Pro172fs)
NM_014365.3(HSPB8):c.526A>G (p.Thr176Ala)
NM_014365.3(HSPB8):c.556C>T (p.Leu186Phe)
NM_014365.3(HSPB8):c.577_580dup (p.Thr194fs)
NM_014365.3(HSPB8):c.85C>A (p.Arg29Ser)
NM_014365.3(HSPB8):c.85C>T (p.Arg29Cys)

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