ClinVar Miner

List of variants reported as benign 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: 43
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HGVS dbSNP gnomAD frequency
NM_004082.5(DCTN1):c.1605A>G (p.Thr535=) rs13429423 0.04117
NM_004082.5(DCTN1):c.859C>A (p.Leu287Met) rs13420401 0.03855
NM_004082.5(DCTN1):c.*21C>T rs11555696 0.02286
NM_004082.5(DCTN1):c.2448A>G (p.Ala816=) rs1130484 0.01851
NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln) rs17721059 0.01316
NM_004082.5(DCTN1):c.1288-3C>T rs72466490 0.01285
NM_004082.5(DCTN1):c.34-11G>T rs73948789 0.01216
NM_004082.5(DCTN1):c.3529+5G>A rs72466494 0.00644
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.3594C>T (p.Thr1198=) rs115689748 0.00250
NM_004082.5(DCTN1):c.1617A>G (p.Glu539=) rs139061654 0.00215
NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln) rs72659383 0.00166
NM_004082.5(DCTN1):c.*167C>T rs142053202 0.00147
NM_004082.5(DCTN1):c.3498G>A (p.Thr1166=) rs142030960 0.00086
NM_004082.5(DCTN1):c.1504C>A (p.Arg502Ser) rs145958900 0.00070
NM_004082.5(DCTN1):c.3643C>G (p.Pro1215Ala) rs184147813 0.00051
NM_004082.5(DCTN1):c.279+8C>T rs376401397 0.00046
NM_004082.5(DCTN1):c.*122A>C rs777649011 0.00034
NM_004082.5(DCTN1):c.2805C>G (p.Ile935Met) rs145130328 0.00029
NM_004082.5(DCTN1):c.597G>A (p.Pro199=) rs143607419 0.00029
NM_004082.5(DCTN1):c.558G>A (p.Pro186=) rs201078804 0.00028
NM_004082.5(DCTN1):c.570G>A (p.Pro190=) rs528908728 0.00016
NM_004082.5(DCTN1):c.3345+13C>T rs376707439 0.00013
NM_004082.5(DCTN1):c.2213A>G (p.Gln738Arg) rs143800457 0.00010
NM_004082.5(DCTN1):c.788G>T (p.Ser263Ile) rs368273709 0.00010
NM_004082.5(DCTN1):c.2278A>G (p.Met760Val) rs754780894 0.00007
NM_004082.5(DCTN1):c.1822G>A (p.Val608Met) rs780858230 0.00004
NM_004082.5(DCTN1):c.2952C>G (p.Ala984=) rs371241720 0.00004
NM_004082.5(DCTN1):c.3782G>A (p.Arg1261Gln) rs553822174 0.00004
NM_004082.5(DCTN1):c.2136T>C (p.Asp712=) rs147297927 0.00003
NM_004082.5(DCTN1):c.2761-13G>A rs531275207 0.00003
NM_004082.5(DCTN1):c.3519C>T (p.Arg1173=) rs146094433 0.00002
NM_004082.5(DCTN1):c.*57C>T rs567051449 0.00001
NM_004082.5(DCTN1):c.2505G>A (p.Thr835=) rs767877041 0.00001
NM_004082.5(DCTN1):c.3478A>C (p.Asn1160His) rs747831061 0.00001
NM_004082.5(DCTN1):c.646-15G>A rs201438504 0.00001
NM_004082.5(DCTN1):c.1129A>C (p.Met377Leu) rs570863800
NM_004082.5(DCTN1):c.2432C>G (p.Pro811Arg) rs150928856
NM_004082.5(DCTN1):c.3799G>C (p.Glu1267Gln) rs146083590
NM_004082.5(DCTN1):c.627G>T (p.Pro209=) rs147673066
NM_004082.5(DCTN1):c.810C>G (p.Ala270=) rs569011011
NM_004082.5(DCTN1):c.999C>G (p.Asp333Glu) rs200952455

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