ClinVar Miner

List of variants studied for Spinocerebellar ataxia 47

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001020658.2(PUM1):c.2337T>C (p.Asn779=) rs2275741 0.39017
NM_001020658.2(PUM1):c.364-44A>G rs4949331 0.31144
NM_001020658.2(PUM1):c.3243-46_3243-45del rs56387244 0.24759
NM_001020658.2(PUM1):c.131C>T (p.Ser44Leu) rs528903842 0.00002
NM_001020658.2(PUM1):c.3103A>T (p.Thr1035Ser) rs771145682 0.00001
NM_001020658.2(PUM1):c.1297G>A (p.Ala433Thr)
NM_001020658.2(PUM1):c.1444G>A (p.Ala482Thr) rs1017436032
NM_001020658.2(PUM1):c.1448C>T (p.Ala483Val)
NM_001020658.2(PUM1):c.1773del (p.Ser592fs) rs1640658015
NM_001020658.2(PUM1):c.213dup (p.Ala72fs) rs2124008285
NM_001020658.2(PUM1):c.2405C>T (p.Ser802Phe) rs1640045849
NM_001020658.2(PUM1):c.2420C>T (p.Pro807Leu) rs779524509
NM_001020658.2(PUM1):c.2559A>G (p.Ile853Met) rs1640041056
NM_001020658.2(PUM1):c.2592-5T>G
NM_001020658.2(PUM1):c.3028C>T (p.Arg1010Ter) rs1639458746
NM_001020658.2(PUM1):c.3283G>A (p.Glu1095Lys) rs1639226190
NM_001020658.2(PUM1):c.3415C>T (p.Arg1139Trp) rs1557541619
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp) rs1557539450
NM_001020658.2(PUM1):c.364G>A (p.Val122Met) rs1643312973
NM_001020658.2(PUM1):c.46G>T (p.Asp16Tyr) rs1644321851
NM_001020658.2(PUM1):c.50C>T (p.Ser17Phe)
NM_001020658.2(PUM1):c.7G>A (p.Val3Ile) rs1187853515
NM_001020658.2(PUM1):c.896C>A (p.Pro299His) rs1641834551
NM_001020658.2(PUM1):c.926T>C (p.Val309Ala)
NM_001020658.2(PUM1):c.949A>C (p.Asn317His) rs2124486243

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