ClinVar Miner

List of variants in gene GDAP1 reported as uncertain significance for Inborn genetic diseases

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.310+6del rs780828430 0.00109
NM_018972.4(GDAP1):c.574C>A (p.Leu192Ile) rs144199299 0.00046
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val) rs148508128 0.00040
NM_018972.4(GDAP1):c.256A>G (p.Ile86Val) rs144037310 0.00016
NM_018972.4(GDAP1):c.1039A>G (p.Met347Val) rs112786851 0.00006
NM_018972.4(GDAP1):c.694+5G>A rs752550394 0.00006
NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala) rs371138642 0.00004
NM_018972.4(GDAP1):c.721G>A (p.Gly241Ser) rs533081002 0.00003
NM_018972.4(GDAP1):c.260T>C (p.Ile87Thr) rs751297226 0.00002
NM_018972.4(GDAP1):c.681T>A (p.Asn227Lys) rs762473236 0.00002
NM_018972.4(GDAP1):c.523G>C (p.Ala175Pro) rs1362886530 0.00001
NM_018972.4(GDAP1):c.892A>C (p.Asn298His) rs1470584902 0.00001
NM_018972.4(GDAP1):c.1014G>A (p.Met338Ile)
NM_018972.4(GDAP1):c.1019dup (p.Arg341fs) rs756461496
NM_018972.4(GDAP1):c.207G>A (p.Met69Ile) rs770714080
NM_018972.4(GDAP1):c.257T>A (p.Ile86Lys)
NM_018972.4(GDAP1):c.310+3A>G rs1586795495
NM_018972.4(GDAP1):c.363ACA[1] (p.Gln122del)
NM_018972.4(GDAP1):c.407A>G (p.Tyr136Cys)
NM_018972.4(GDAP1):c.427C>T (p.His143Tyr)
NM_018972.4(GDAP1):c.637G>C (p.Glu213Gln)
NM_018972.4(GDAP1):c.689C>G (p.Thr230Ser)
NM_018972.4(GDAP1):c.829G>C (p.Glu277Gln)
NM_018972.4(GDAP1):c.841G>A (p.Glu281Lys)
NM_018972.4(GDAP1):c.874G>C (p.Val292Leu) rs767553697
NM_018972.4(GDAP1):c.940A>G (p.Lys314Glu)
NM_018972.4(GDAP1):c.964A>G (p.Thr322Ala)
NM_018972.4(GDAP1):c.984G>T (p.Leu328Phe)

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