ClinVar Miner

List of variants in gene DCTN1 reported as uncertain significance for Perry syndrome

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Total variants: 58
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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.*251T>G rs756362040 0.00011
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.2559C>T (p.Ala853=) rs770872113 0.00005
NM_004082.5(DCTN1):c.-162G>A rs1292504283 0.00004
NM_004082.5(DCTN1):c.824G>A (p.Arg275His) rs375266113 0.00004
NM_004082.5(DCTN1):c.2753C>A (p.Pro918His) rs771075973 0.00002
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.2297G>A (p.Arg766Gln) rs200611961 0.00001
NM_004082.5(DCTN1):c.3185G>A (p.Gly1062Asp) rs764918482 0.00001
NM_004082.5(DCTN1):c.3187A>G (p.Ile1063Val) rs759276455 0.00001
NM_004082.5(DCTN1):c.3197-13A>G rs374049568 0.00001
NM_004082.5(DCTN1):c.3291C>T (p.Ile1097=) rs769145486 0.00001
NM_004082.5(DCTN1):c.3621C>T (p.Leu1207=) rs1032786897 0.00001
NM_004082.5(DCTN1):c.3759G>A (p.Ala1253=) rs886056328 0.00001
NM_004082.5(DCTN1):c.59C>T (p.Ala20Val) rs773420384 0.00001
NM_001190836.2(DCTN1):c.-18-2073C>T rs566961027
NM_004082.5(DCTN1):c.*111C>T rs1673974256
NM_004082.5(DCTN1):c.-167del rs886056335
NM_004082.5(DCTN1):c.-262A>G rs886056336
NM_004082.5(DCTN1):c.-263C>G rs1013222986
NM_004082.5(DCTN1):c.-72C>G rs886056334
NM_004082.5(DCTN1):c.1065A>T (p.Ala355=) rs886056333
NM_004082.5(DCTN1):c.1140T>G (p.Leu380=) rs886056332
NM_004082.5(DCTN1):c.1270G>C (p.Asp424His) rs1553465143
NM_004082.5(DCTN1):c.1393-7G>T rs886056330
NM_004082.5(DCTN1):c.1393-8T>C rs886056331
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.2782G>A (p.Ala928Thr) rs1674377455
NM_004082.5(DCTN1):c.279+2T>C
NM_004082.5(DCTN1):c.2802G>C (p.Glu934Asp) rs1674375862
NM_004082.5(DCTN1):c.2887-2A>G
NM_004082.5(DCTN1):c.2973C>G (p.Ile991Met) rs140969689
NM_004082.5(DCTN1):c.2989C>T (p.Arg997Trp) rs1030053524
NM_004082.5(DCTN1):c.345A>G (p.Lys115=) rs1675303256
NM_004082.5(DCTN1):c.3547G>T (p.Ala1183Ser) rs886056329
NM_004082.5(DCTN1):c.3652A>G (p.Thr1218Ala) rs886070472
NM_004082.5(DCTN1):c.3799G>C (p.Glu1267Gln) rs146083590
NM_004082.5(DCTN1):c.622C>T (p.Pro208Ser) rs770302677

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