ClinVar Miner

List of variants in gene GDAP1 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.695-293C>T rs72665429 0.02191
NM_018972.4(GDAP1):c.310+61T>G rs59070908 0.01149
NC_000008.11:g.74350062C>A rs78334365 0.00892
NM_018972.4(GDAP1):c.579+40G>A rs75294039 0.00881
NM_018972.4(GDAP1):c.485-57T>A rs116975351 0.00793
NM_018972.4(GDAP1):c.580-279G>C rs17342145 0.00746
NM_018972.4(GDAP1):c.695-99A>G rs73345396 0.00603
NM_018972.4(GDAP1):c.580-24T>C rs111269356 0.00597
NM_018972.4(GDAP1):c.310+229G>A rs138722835 0.00579
NM_018972.4(GDAP1):c.310+230T>C rs117745861 0.00564
NM_018972.4(GDAP1):c.485-190C>T rs142513769 0.00564
NC_000008.11:g.74350137A>T rs112493177 0.00507
NC_000008.11:g.74350276G>A rs73345366 0.00488
NM_018972.4(GDAP1):c.*61C>T rs73345399 0.00483
NM_018972.4(GDAP1):c.694+138T>C rs116176011 0.00478
NM_018972.4(GDAP1):c.*1819T>C rs141157275 0.00466
NM_018972.4(GDAP1):c.484+218A>T rs147575845 0.00371
NM_018972.4(GDAP1):c.310+155T>A rs150246195 0.00298
NM_018972.4(GDAP1):c.310+6del rs780828430 0.00109
NM_018972.4(GDAP1):c.840C>T (p.Tyr280=) rs374624466 0.00014
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met) rs199529910 0.00012
NM_018972.4(GDAP1):c.693A>T (p.Pro231=) rs181157785 0.00009
NM_018972.4(GDAP1):c.720C>T (p.Cys240=) rs367790253 0.00006
NC_000008.11:g.74350215_74350216dup rs112601241
NM_018972.4(GDAP1):c.117+250C>A rs181572426
NM_018972.4(GDAP1):c.311-85_311-83del rs145768916
NM_018972.4(GDAP1):c.480T>A (p.Ile160=) rs1586803400
NM_018972.4(GDAP1):c.484+293A>G rs149071543
NM_018972.4(GDAP1):c.485-3C>T rs761332159
NM_018972.4(GDAP1):c.580-154_580-153insC rs35698318

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