List of variants in gene combination GDAP1, LOC130000622 reported as pathogenic for Charcot-Marie-Tooth disease type 4A

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter)	rs761035569
NM_018972.4(GDAP1):c.116del (p.Lys39fs)	rs778547659
NM_018972.4(GDAP1):c.13C>T (p.Gln5Ter)	rs2131493453
NM_018972.4(GDAP1):c.1A>G (p.Met1Val)	rs1474390668
NM_018972.4(GDAP1):c.1del (p.Met1fs)	rs2536722528
NM_018972.4(GDAP1):c.22C>T (p.Gln8Ter)	rs1586794015
NM_018972.4(GDAP1):c.27_28del (p.Gly10fs)	rs2131493519
NM_018972.4(GDAP1):c.92G>A (p.Trp31Ter)	rs121908112

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