ClinVar Miner

List of variants in gene ANO3 studied for Dystonia 24

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_031418.4(ANO3):c.738-50T>C rs293937 0.98729
NM_031418.4(ANO3):c.1154+37T>G rs420143 0.70870
NM_031418.4(ANO3):c.1033-30A>T rs410036 0.70868
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_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_031418.4(ANO3):c.2142-49A>G rs10835040 0.37272
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_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_031418.4(ANO3):c.1231A>G (p.Ile411Val) rs767864233 0.00030
NM_031418.4(ANO3):c.2609C>T (p.Ser870Phe) rs75217495 0.00003
NM_031418.4(ANO3):c.743A>C (p.Gln248Pro) rs1381117686 0.00003
NM_031418.4(ANO3):c.2586G>T (p.Lys862Asn) rs1277790116 0.00002
NM_001313726.2(ANO3):c.118C>T (p.Gln40Ter)
NM_001313726.2(ANO3):c.58C>T (p.His20Tyr)
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.1470G>T (p.Trp490Cys) rs1565132917
NM_031418.4(ANO3):c.1480A>T (p.Arg494Trp) rs587776922
NM_031418.4(ANO3):c.1528G>A (p.Glu510Lys) rs1590612392
NM_031418.4(ANO3):c.1585C>A (p.Pro529Thr)
NM_031418.4(ANO3):c.160A>G (p.Thr54Ala)
NM_031418.4(ANO3):c.1699G>A (p.Gly567Arg) rs2132929609
NM_031418.4(ANO3):c.1714C>T (p.Arg572Cys)
NM_031418.4(ANO3):c.1807A>G (p.Asn603Asp) rs1554976233
NM_031418.4(ANO3):c.1882C>T (p.Arg628Ter) rs1334945680
NM_031418.4(ANO3):c.1943A>G (p.Asn648Ser) rs1590658782
NM_031418.4(ANO3):c.1969G>A (p.Ala657Thr) rs1478393931
NM_031418.4(ANO3):c.2043+97C>G rs10835033
NM_031418.4(ANO3):c.2053A>G (p.Ser685Gly) rs587776923
NM_031418.4(ANO3):c.2090T>A (p.Val697Asp)
NM_031418.4(ANO3):c.2191G>A (p.Asp731Asn)
NM_031418.4(ANO3):c.2306T>C (p.Val769Ala)
NM_031418.4(ANO3):c.2858T>C (p.Val953Ala)
NM_031418.4(ANO3):c.702C>A (p.Cys234Ter) rs886037882
NM_031418.4(ANO3):c.787A>G (p.Met263Val)
NM_031418.4(ANO3):c.827C>G (p.Ser276Ter)
NM_031418.4(ANO3):c.944G>A (p.Arg315His)
NM_031418.4(ANO3):c.972del (p.Val325fs)

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