ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease recessive intermediate a by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
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HGVS dbSNP
NC_000008.10:g.(?_74888497)_(75274233_?)dup
NC_000008.11:g.(?_74349383)_(74368110_?)dup
NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser) rs140811185
NM_018972.4(GDAP1):c.1037G>A (p.Ser346Asn) rs1380854548
NM_018972.4(GDAP1):c.1039A>G (p.Met347Val)
NM_018972.4(GDAP1):c.1066A>G (p.Asn356Asp) rs765609133
NM_018972.4(GDAP1):c.106A>C (p.Ser36Arg) rs1448664085
NM_018972.4(GDAP1):c.109T>A (p.Ser37Thr) rs756121249
NM_018972.4(GDAP1):c.118-3C>G rs750762719
NM_018972.4(GDAP1):c.161A>G (p.His54Arg) rs1441803924
NM_018972.4(GDAP1):c.169A>C (p.Ser57Arg) rs863224774
NM_018972.4(GDAP1):c.171T>G (p.Ser57Arg)
NM_018972.4(GDAP1):c.193G>A (p.Glu65Lys)
NM_018972.4(GDAP1):c.247G>A (p.Gly83Arg) rs1586795373
NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala) rs371138642
NM_018972.4(GDAP1):c.256A>G (p.Ile86Val) rs144037310
NM_018972.4(GDAP1):c.260T>C (p.Ile87Thr) rs751297226
NM_018972.4(GDAP1):c.310+4A>G
NM_018972.4(GDAP1):c.338A>G (p.Lys113Arg) rs1290008555
NM_018972.4(GDAP1):c.350A>G (p.Tyr117Cys)
NM_018972.4(GDAP1):c.359G>T (p.Arg120Leu) rs1174933176
NM_018972.4(GDAP1):c.385G>A (p.Asp129Asn) rs1279013936
NM_018972.4(GDAP1):c.393G>C (p.Leu131Phe) rs1586803187
NM_018972.4(GDAP1):c.419G>T (p.Cys140Phe) rs1375032292
NM_018972.4(GDAP1):c.430C>A (p.Pro144Thr) rs570990910
NM_018972.4(GDAP1):c.475A>G (p.Arg159Gly)
NM_018972.4(GDAP1):c.485-3C>T rs761332159
NM_018972.4(GDAP1):c.523G>C (p.Ala175Pro) rs1362886530
NM_018972.4(GDAP1):c.526G>A (p.Glu176Lys) rs1475695228
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val) rs148508128
NM_018972.4(GDAP1):c.557T>C (p.Ile186Thr)
NM_018972.4(GDAP1):c.574C>A (p.Leu192Ile) rs144199299
NM_018972.4(GDAP1):c.58G>A (p.Ala20Thr)
NM_018972.4(GDAP1):c.5C>G (p.Ala2Gly) rs376868259
NM_018972.4(GDAP1):c.614T>C (p.Leu205Ser) rs878855054
NM_018972.4(GDAP1):c.620A>C (p.Lys207Thr) rs140384868
NM_018972.4(GDAP1):c.653A>G (p.Gln218Arg) rs556827873
NM_018972.4(GDAP1):c.671A>C (p.Gln224Pro) rs1586806229
NM_018972.4(GDAP1):c.680A>G (p.Asn227Ser) rs1026680509
NM_018972.4(GDAP1):c.693A>T (p.Pro231=) rs181157785
NM_018972.4(GDAP1):c.694+1G>A rs1183978180
NM_018972.4(GDAP1):c.694+5G>A rs752550394
NM_018972.4(GDAP1):c.695-1G>A
NM_018972.4(GDAP1):c.695-9T>A rs906225606
NM_018972.4(GDAP1):c.710C>G (p.Pro237Arg) rs763963750
NM_018972.4(GDAP1):c.721G>A (p.Gly241Ser) rs533081002
NM_018972.4(GDAP1):c.754G>A (p.Ala252Thr) rs778105019
NM_018972.4(GDAP1):c.765G>C (p.Leu255Phe)
NM_018972.4(GDAP1):c.770G>A (p.Arg257Gln) rs1425323007
NM_018972.4(GDAP1):c.776A>G (p.Lys259Arg) rs778557691
NM_018972.4(GDAP1):c.785G>A (p.Gly262Glu) rs1563445155
NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly) rs150989205
NM_018972.4(GDAP1):c.818G>A (p.Arg273Gln) rs879254192
NM_018972.4(GDAP1):c.820C>G (p.Pro274Ala) rs1563445213
NM_018972.4(GDAP1):c.839A>C (p.Tyr280Ser) rs1417699318
NM_018972.4(GDAP1):c.845G>A (p.Arg282His) rs375431837
NM_018972.4(GDAP1):c.86A>C (p.Tyr29Ser) rs1563437000
NM_018972.4(GDAP1):c.872A>G (p.Lys291Arg)
NM_018972.4(GDAP1):c.892A>C (p.Asn298His)
NM_018972.4(GDAP1):c.904T>G (p.Ser302Ala) rs1586807478
NM_018972.4(GDAP1):c.907G>T (p.Ala303Ser) rs368055667
NM_018972.4(GDAP1):c.927C>G (p.Phe309Leu)
NM_018972.4(GDAP1):c.937A>G (p.Lys313Glu)
NM_018972.4(GDAP1):c.970C>T (p.Leu324Phe) rs1176626666
NM_018972.4(GDAP1):c.977T>A (p.Val326Asp) rs1416176817
NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp) rs397515432
NM_018972.4(GDAP1):c.985C>T (p.Leu329Phe) rs879254196

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