ClinVar Miner

List of variants in gene GNAL reported by Breakthrough Genomics, Breakthrough Genomics

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Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NC_000018.10:g.11688873A>G rs4797577 0.99081
NM_182978.4(GNAL):c.851+102A>G rs4315401 0.96817
NM_182978.4(GNAL):c.625-37T>A rs1647556 0.76251
NM_182978.4(GNAL):c.625-31T>G rs1647557 0.68234
NM_182978.4(GNAL):c.777+249T>C rs787554 0.68029
NM_182978.4(GNAL):c.625-88A>G rs1647555 0.67897
NC_000018.10:g.11688980G>A rs8087266 0.36429
NM_182978.4(GNAL):c.376+81T>C rs9675415 0.35940
NM_182978.4(GNAL):c.450-140G>A rs11873821 0.32843
NM_182978.4(GNAL):c.449+19C>A rs1895689 0.32823
NM_182978.4(GNAL):c.504+35G>A rs8095592 0.32686
NM_182978.4(GNAL):c.910+72C>T rs2855646 0.26534
NM_182978.4(GNAL):c.-41T>C rs9303742 0.23713
NM_182978.4(GNAL):c.1032-93G>T rs2855639 0.17431
NM_182978.4(GNAL):c.-111C>T rs61495657 0.16977
NM_182978.4(GNAL):c.851+115A>G rs2855641 0.16380
NM_182978.4(GNAL):c.624+90T>C rs72865259 0.13506
NM_182978.4(GNAL):c.450-165T>C rs11876935 0.12646
NM_182978.4(GNAL):c.851+118A>G rs2855642 0.12390
NM_182978.4(GNAL):c.137G>A (p.Arg46Lys) rs7236433 0.12280
NM_182978.4(GNAL):c.624+48T>C rs9963594 0.06066
NM_182978.4(GNAL):c.1163-7T>G rs3892113 0.05790
NM_182978.4(GNAL):c.851+73A>C rs138151459 0.02097
NM_182978.4(GNAL):c.261G>A (p.Glu87=) rs181443061 0.01603
NM_182978.4(GNAL):c.1231-69G>A rs78323409 0.00969
NM_001369387.1(GNAL):c.66C>T (p.Arg22=) rs73397885 0.00965
NM_182978.4(GNAL):c.1245C>T (p.Ala415=) rs41289504 0.00829
NM_182978.4(GNAL):c.450-82C>T rs140701722 0.00348
NM_182978.4(GNAL):c.48G>A (p.Gly16=) rs543230597 0.00149
NM_001369387.1(GNAL):c.132C>T (p.Arg44=) rs145400180 0.00016
NM_182978.4(GNAL):c.1249G>A (p.Gly417Ser) rs142792291 0.00005
NM_182978.4(GNAL):c.107C>T (p.Pro36Leu) rs7236061 0.00001
NM_182978.4(GNAL):c.1031+76G>A rs111226018
NM_182978.4(GNAL):c.1162+119T>C rs2071140
NM_182978.4(GNAL):c.377-116C>G rs28696966

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