ClinVar Miner

List of variants in gene GDAP1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.310+6del rs780828430 0.00109
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val) rs148508128 0.00040
NM_018972.4(GDAP1):c.389C>A (p.Ser130Tyr) rs147295250 0.00002
NM_018972.4(GDAP1):c.782T>C (p.Leu261Pro) rs745398081 0.00002
NM_018972.4(GDAP1):c.620A>C (p.Lys207Thr) rs140384868 0.00001
NM_018972.4(GDAP1):c.118-3del rs1586795095
NM_018972.4(GDAP1):c.405C>T (p.Ala135=) rs763427538
NM_018972.4(GDAP1):c.569A>G (p.Lys190Arg)
NM_018972.4(GDAP1):c.579+5G>A rs1809391441
NM_018972.4(GDAP1):c.628G>C (p.Asp210His)
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.907G>A (p.Ala303Thr) rs368055667
NM_018972.4(GDAP1):c.943A>G (p.Arg315Gly) rs1586807573

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