ClinVar Miner

List of variants studied for Perry syndrome by Inherited Neuropathy Consortium Ii, University Of Miami

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_004082.5(DCTN1):c.586A>G (p.Ile196Val) rs55862001 0.00462
NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile) rs72466496 0.00287
NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln) rs72659383 0.00166
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp) rs121909344 0.00010
NM_004082.5(DCTN1):c.100G>C (p.Glu34Gln) rs151052060 0.00008
NM_004082.5(DCTN1):c.2002C>T (p.His668Tyr) rs764443534 0.00006
NM_004082.5(DCTN1):c.3302G>A (p.Arg1101Lys) rs121909345 0.00002
NM_004082.5(DCTN1):c.632C>T (p.Pro211Leu) rs763427780 0.00002
NM_004082.5(DCTN1):c.1712T>C (p.Met571Thr) rs121909343 0.00001
NM_004082.5(DCTN1):c.2054T>G (p.Val685Gly) rs774272417 0.00001
NM_004082.5(DCTN1):c.1270G>C (p.Asp424His) rs1553465143
NM_004082.5(DCTN1):c.156T>G (p.Phe52Leu) rs886039227
NM_004082.5(DCTN1):c.175G>A (p.Gly59Ser) rs121909342
NM_004082.5(DCTN1):c.175G>C (p.Gly59Arg) rs121909342
NM_004082.5(DCTN1):c.187G>T (p.Asp63Tyr)
NM_004082.5(DCTN1):c.2009A>T (p.Tyr670Phe) rs765819985
NM_004082.5(DCTN1):c.200G>A (p.Gly67Asp) rs886039228
NM_004082.5(DCTN1):c.202A>G (p.Lys68Glu)
NM_004082.5(DCTN1):c.211G>A (p.Gly71Arg) rs72466485
NM_004082.5(DCTN1):c.212G>A (p.Gly71Glu) rs67586389
NM_004082.5(DCTN1):c.212G>C (p.Gly71Ala) rs67586389
NM_004082.5(DCTN1):c.214A>C (p.Thr72Pro) rs72466486
NM_004082.5(DCTN1):c.221A>C (p.Gln74Pro) rs72466487
NM_004082.5(DCTN1):c.233A>G (p.Tyr78Cys) rs886039229
NM_004082.5(DCTN1):c.279+2T>C
NM_004082.5(DCTN1):c.2887-2A>G
NM_004082.5(DCTN1):c.2989C>T (p.Arg997Trp) rs1030053524

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