ClinVar Miner

List of variants studied for Basal ganglia calcification, idiopathic, 7, autosomal recessive

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_020702.5(MYORG):c.159C>G (p.Asp53Glu) rs4879781 0.94274
NM_020702.5(MYORG):c.1154T>A (p.Phe385Tyr) rs7852399 0.22664
NM_020702.5(MYORG):c.1634G>A (p.Gly545Asp) rs199770930 0.00011
NM_020702.5(MYORG):c.1300G>C (p.Asp434His) rs916933188 0.00003
NM_020702.5(MYORG):c.1967T>C (p.Ile656Thr) rs370944350 0.00003
NM_020702.5(MYORG):c.103A>G (p.Met35Val) rs765483979 0.00002
NM_020702.5(MYORG):c.1865T>C (p.Leu622Pro) rs1239594469 0.00001
NM_020702.5(MYORG):c.225G>A (p.Trp75Ter) rs760451348 0.00001
NM_020702.5(MYORG):c.747G>C (p.Trp249Cys) rs1356560096 0.00001
I655T
NM_020702.5(MYORG):c.1057GAC[1] (p.Asp354del) rs1180204613
NM_020702.5(MYORG):c.1086CTTCGA[1] (p.363FD[1]) rs1398218251
NM_020702.5(MYORG):c.1118C>A (p.Ala373Asp) rs1588004082
NM_020702.5(MYORG):c.1233del (p.Phe411fs) rs1563981857
NM_020702.5(MYORG):c.1321C>G (p.Arg441Gly) rs749427106
NM_020702.5(MYORG):c.1328G>A (p.Trp443Ter) rs868530644
NM_020702.5(MYORG):c.1333C>T (p.Gln445Ter) rs1563981743
NM_020702.5(MYORG):c.1427C>A (p.Thr476Asn) rs769099047
NM_020702.5(MYORG):c.1431C>A (p.Tyr477Ter) rs1588003652
NM_020702.5(MYORG):c.1469A>G (p.Tyr490Cys) rs2131878793
NM_020702.5(MYORG):c.1607C>T (p.Pro536Leu) rs1820592071
NM_020702.5(MYORG):c.1788C>G (p.Tyr596Ter)
NM_020702.5(MYORG):c.1831C>T (p.Arg611Trp) rs536187898
NM_020702.5(MYORG):c.1873G>T (p.Glu625Ter)
NM_020702.5(MYORG):c.191G>A (p.Gly64Glu) rs756514041
NM_020702.5(MYORG):c.1979T>A (p.Leu660Gln) rs1588002920
NM_020702.5(MYORG):c.1991C>T (p.Pro664Leu) rs771434563
NM_020702.5(MYORG):c.319G>A (p.Gly107Arg)
NM_020702.5(MYORG):c.337_348dup (p.Leu113_Arg116dup) rs775762093
NM_020702.5(MYORG):c.338T>G (p.Leu113Arg) rs753277260
NM_020702.5(MYORG):c.428_442del (p.Leu143_Ile147del) rs1588005063
NM_020702.5(MYORG):c.607C>T (p.Gln203Ter) rs1563982489
NM_020702.5(MYORG):c.687G>C (p.Trp229Cys) rs1588004637
NM_020702.5(MYORG):c.695C>T (p.Ser232Leu) rs757434146
NM_020702.5(MYORG):c.701_702del (p.Ala234fs)
NM_020702.5(MYORG):c.782_783delinsTT (p.Arg261Leu) rs1563982307
NM_020702.5(MYORG):c.841T>C (p.Tyr281His)
NM_020702.5(MYORG):c.954G>T (p.Trp318Cys)

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