ClinVar Miner

List of variants studied for isolated dystonia by Genome-Nilou Lab

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_031418.4(ANO3):c.738-50T>C rs293937 0.98729
NM_004369.4(COL6A3):c.9034G>C (p.Ala3012Pro) rs2270669 0.81638
NM_031418.4(ANO3):c.1154+37T>G rs420143 0.70870
NM_031418.4(ANO3):c.1033-30A>T rs410036 0.70868
NM_006087.4(TUBB4A):c.774T>C (p.Val258=) rs2071347 0.70114
NM_001385079.1(PDE10A):c.1890-19T>C rs220749 0.70008
NM_004369.4(COL6A3):c.8780T>C (p.Met2927Thr) rs6728818 0.68552
NM_182978.4(GNAL):c.625-31T>G rs1647557 0.67842
NM_031418.4(ANO3):c.1290-13del rs59938249 0.66082
NM_031418.4(ANO3):c.1290-56T>C rs395770 0.65571
NM_031418.4(ANO3):c.1158A>G (p.Leu386=) rs2663168 0.65512
NM_004369.4(COL6A3):c.6855G>C (p.Gly2285=) rs3790993 0.56512
NM_031418.4(ANO3):c.2682C>T (p.Pro894=) rs10835051 0.55889
NM_031418.4(ANO3):c.2658-56T>C rs10835050 0.55888
NM_031418.4(ANO3):c.738-73T>A rs9988806 0.54567
NM_031418.4(ANO3):c.738-56T>A rs2131696 0.54564
NM_031418.4(ANO3):c.1290-19G>T rs56197314 0.46078
NM_031418.4(ANO3):c.1290-25G>T rs56104576 0.42354
NM_004369.4(COL6A3):c.7929G>A (p.Ala2643=) rs4433949 0.38748
NM_031418.4(ANO3):c.2142-49A>G rs10835040 0.37272
NM_004369.4(COL6A3):c.9206C>T (p.Thr3069Ile) rs1131296 0.36920
NM_031418.4(ANO3):c.1989C>T (p.Phe663=) rs7946841 0.34149
NM_031418.4(ANO3):c.1448-40T>C rs7112022 0.28134
NM_031418.4(ANO3):c.46+83G>T rs17243259 0.27999
NM_182978.4(GNAL):c.-41T>C rs9303742 0.25786
NM_004369.4(COL6A3):c.6369G>A (p.Leu2123=) rs2646254 0.25503
NM_004369.4(COL6A3):c.4533G>T (p.Gly1511=) rs2645774 0.23421
NM_004369.4(COL6A3):c.3129C>T (p.Gly1043=) rs12622093 0.20507
NM_004369.4(COL6A3):c.7092+26G>A rs2270656 0.19247
NM_031418.4(ANO3):c.1692A>C (p.Ala564=) rs11604868 0.16318
NM_031418.4(ANO3):c.977-80T>C rs375562 0.10163
NM_031418.4(ANO3):c.1290-19del rs371643222 0.08881
NM_031418.4(ANO3):c.2275+20dup rs146445511 0.02341
NM_031418.4(ANO3):c.2657+44A>T rs72881793 0.02323
NM_031418.4(ANO3):c.1836+19A>G rs78440820 0.01320
NM_031418.4(ANO3):c.2811C>T (p.Asp937=) rs117748217 0.00742
NM_031418.4(ANO3):c.977-6T>C rs3802751 0.00673
NM_031418.4(ANO3):c.1968C>T (p.Ile656=) rs149050831 0.00597
NM_031418.4(ANO3):c.164C>T (p.Ser55Phe) rs61746297 0.00470
NM_031418.4(ANO3):c.714C>T (p.Asp238=) rs146532706 0.00288
NM_031418.4(ANO3):c.1032+15C>T rs187545947 0.00223
NM_031418.4(ANO3):c.870-7T>C rs138437878 0.00220
NM_031418.4(ANO3):c.2817A>G (p.Pro939=) rs150506041 0.00137
NM_031418.4(ANO3):c.1911C>T (p.Phe637=) rs77422010 0.00122
NM_031418.4(ANO3):c.348A>G (p.Ser116=) rs138889073 0.00080
NM_031418.4(ANO3):c.1671+9T>C rs377766692 0.00052
NM_031418.4(ANO3):c.1915C>T (p.Leu639=) rs149866447 0.00043
NM_001385079.1(PDE10A):c.1692G>A (p.Ala564=) rs220740
NM_004369.4(COL6A3):c.4311T>C (p.Ile1437=) rs2646260
NM_031418.4(ANO3):c.1290-13G>T rs56325113
NM_031418.4(ANO3):c.1290-14del rs376265231
NM_031418.4(ANO3):c.1290-5_1290-4del rs202169392
NM_031418.4(ANO3):c.1290-7del rs1006647820
NM_031418.4(ANO3):c.1447+57AC[18] rs71047866
NM_031418.4(ANO3):c.1447+57AC[21] rs71047866
NM_031418.4(ANO3):c.2043+97C>G rs10835033

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