ClinVar Miner

List of variants studied for Dystonia 25

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_182978.4(GNAL):c.625-31T>G rs1647557 0.67842
NM_182978.4(GNAL):c.-41T>C rs9303742 0.25786
NM_182978.4(GNAL):c.1163-7T>G rs3892113 0.05790
NM_182978.4(GNAL):c.540A>G (p.Pro180=) rs182262644 0.00028
NM_182978.4(GNAL):c.505-5T>C rs766177601 0.00002
NM_001369387.1(GNAL):c.61C>T (p.Arg21Ter) rs398122928
NM_182978.4(GNAL):c.1109C>A (p.Ser370Ter) rs398122924
NM_182978.4(GNAL):c.311G>A (p.Gly104Asp)
NM_182978.4(GNAL):c.377-261G>C
NM_182978.4(GNAL):c.514dup (p.Ser172fs) rs398122926
NM_182978.4(GNAL):c.640G>A (p.Val214Met) rs398122923
NM_182978.4(GNAL):c.694G>A (p.Glu232Lys) rs398122925
NM_182978.4(GNAL):c.764C>T (p.Thr255Ile) rs1598436429
NM_182978.4(GNAL):c.822dup (p.Arg275fs) rs398122927
NM_182978.4(GNAL):c.910G>A (p.Asp304Asn)
NM_182978.4(GNAL):c.964C>T (p.Arg322Ter) rs1252185897

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