ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease axonal type 2K by Illumina Laboratory Services, Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.*2298A>G rs4551344 0.00796
NM_018972.4(GDAP1):c.*444A>G rs113377784 0.00620
NM_018972.4(GDAP1):c.*1141C>T rs566147187 0.00141
NM_018972.4(GDAP1):c.*331C>T rs1052033443 0.00119
NM_018972.4(GDAP1):c.*931A>G rs532787830 0.00097
NM_018972.4(GDAP1):c.*751A>G rs544136357 0.00078
NM_018972.4(GDAP1):c.*1430T>A rs538689570 0.00073
NM_018972.4(GDAP1):c.*2210C>T rs571939530 0.00062
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val) rs148508128 0.00040
NM_018972.4(GDAP1):c.*873T>C rs573385308 0.00028
NM_018972.4(GDAP1):c.*1415C>T rs558846970 0.00023
NM_018972.4(GDAP1):c.*18C>T rs147945220 0.00019
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met) rs199529910 0.00012
NM_018972.4(GDAP1):c.*1183G>A rs756257305 0.00009
NM_018972.4(GDAP1):c.*618C>T rs886063106 0.00009
NM_018972.4(GDAP1):c.693A>T (p.Pro231=) rs181157785 0.00009
NM_018972.2(GDAP1):c.*2675C>T rs957273627 0.00006
NM_018972.4(GDAP1):c.*1905A>G rs185710169 0.00006
NM_018972.4(GDAP1):c.1039A>G (p.Met347Val) rs112786851 0.00006
NM_018972.4(GDAP1):c.*1301A>G rs779268019 0.00005
NM_018972.4(GDAP1):c.*1416G>A rs575631045 0.00005
NM_018972.2(GDAP1):c.*2723T>C rs886063119 0.00004
NM_018972.4(GDAP1):c.*1372A>G rs896559706 0.00004
NM_018972.4(GDAP1):c.*860T>C rs554748057 0.00004
NM_018972.4(GDAP1):c.*1080G>A rs766481914 0.00003
NM_018972.4(GDAP1):c.*1437A>C rs557040712 0.00003
NM_018972.4(GDAP1):c.*1570G>C rs886063114 0.00003
NM_018972.4(GDAP1):c.*644G>T rs913538379 0.00003
NM_018972.4(GDAP1):c.*663T>C rs886063107 0.00003
NM_018972.4(GDAP1):c.*1030T>C rs576789317 0.00002
NM_018972.4(GDAP1):c.*697A>G rs766828605 0.00002
NM_018972.4(GDAP1):c.374G>A (p.Arg125Gln) rs771810975 0.00002
NM_018972.2(GDAP1):c.*2542A>G rs909463010 0.00001
NM_018972.2(GDAP1):c.*2702T>C rs1809669202 0.00001
NM_018972.4(GDAP1):c.*1289T>C rs1439179536 0.00001
NM_018972.4(GDAP1):c.*1527G>A rs886063113 0.00001
NM_018972.4(GDAP1):c.*1923C>T rs886063116 0.00001
NM_018972.4(GDAP1):c.*195T>C rs1201095819 0.00001
NM_018972.4(GDAP1):c.*1968C>T rs567166158 0.00001
NM_018972.4(GDAP1):c.*1976C>T rs527937918 0.00001
NM_018972.4(GDAP1):c.*2125A>C rs1231558825 0.00001
NM_018972.4(GDAP1):c.*926C>A rs1487448268 0.00001
NM_018972.4(GDAP1):c.*961G>C rs886063110 0.00001
NM_018972.4(GDAP1):c.471T>G (p.Thr157=) rs886293648 0.00001
NM_018972.4(GDAP1):c.485-6T>C rs763802909 0.00001
NM_018972.4(GDAP1):c.*1043G>C rs762978513
NM_018972.4(GDAP1):c.*1124G>T rs886063111
NM_018972.4(GDAP1):c.*1165C>G rs1809586700
NM_018972.4(GDAP1):c.*1377C>T rs886063112
NM_018972.4(GDAP1):c.*1779G>T rs886063115
NM_018972.4(GDAP1):c.*2170A>G rs886063117
NM_018972.4(GDAP1):c.*2298A>C rs4551344
NM_018972.4(GDAP1):c.*451C>T rs1809544520
NM_018972.4(GDAP1):c.*858G>T rs761964880
NM_018972.4(GDAP1):c.*864G>C rs886063108
NM_018972.4(GDAP1):c.*898A>G rs886063109
NM_018972.4(GDAP1):c.296A>T (p.Gln99Leu) rs1808871593
NM_018972.4(GDAP1):c.719G>C (p.Cys240Ser) rs121908115
NM_018972.4(GDAP1):c.776A>G (p.Lys259Arg) rs778557691
NM_018972.4(GDAP1):c.872A>G (p.Lys291Arg) rs1809508613

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