ClinVar Miner

List of variants reported as uncertain significance for Perry syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
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.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.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.1393-7G>T rs886056330
NM_004082.5(DCTN1):c.1393-8T>C rs886056331
NM_004082.5(DCTN1):c.2782G>A (p.Ala928Thr) rs1674377455
NM_004082.5(DCTN1):c.2802G>C (p.Glu934Asp) rs1674375862
NM_004082.5(DCTN1):c.2973C>G (p.Ile991Met) rs140969689
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.622C>T (p.Pro208Ser) rs770302677

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