ClinVar Miner

List of variants in gene ATP2B3 studied for X-linked progressive cerebellar ataxia

Included ClinVar conditions (1):
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001001344.3(ATP2B3):c.790+17G>C rs2980013 0.99748
NM_001001344.3(ATP2B3):c.2839+33A>G rs2980018 0.99672
NM_001001344.3(ATP2B3):c.1473A>G (p.Gly491=) rs3020949 0.99114
NM_001001344.3(ATP2B3):c.2326+11C>T rs3020957 0.95109
NM_001001344.3(ATP2B3):c.2839+14G>T rs3020959 0.88308
NM_001001344.3(ATP2B3):c.664+41G>A rs762733 0.76378
NM_001001344.3(ATP2B3):c.1824-58G>A rs2239682 0.43153
NM_001001344.3(ATP2B3):c.2592G>C (p.Val864=) rs2269415 0.41962
NM_001001344.3(ATP2B3):c.407-6G>A rs139607201 0.01600
NM_001001344.3(ATP2B3):c.3052-5C>T rs189012896 0.00714
NM_001001344.3(ATP2B3):c.3518C>T (p.Ala1173Val) rs149428057 0.00320
NM_001001344.3(ATP2B3):c.2086C>T (p.Arg696Cys) rs782683285 0.00003
NM_001001344.3(ATP2B3):c.2105G>A (p.Arg702His) rs782587313 0.00003
NM_001001344.3(ATP2B3):c.2357G>A (p.Arg786Gln) rs201426629 0.00003
NM_001001344.3(ATP2B3):c.1445G>A (p.Arg482His) rs1557010446 0.00001
NM_001001344.3(ATP2B3):c.3284G>A (p.Arg1095Gln) rs782067205 0.00001
NM_001001344.3(ATP2B3):c.1976C>T (p.Pro659Leu) rs2090483867
NM_001001344.3(ATP2B3):c.2158G>C (p.Gly720Arg) rs782081961
NM_001001344.3(ATP2B3):c.2541C>G (p.Asp847Glu)
NM_001001344.3(ATP2B3):c.2770A>G (p.Thr924Ala) rs2124491843
NM_001001344.3(ATP2B3):c.3160-57A>G rs4243536
NM_001001344.3(ATP2B3):c.3313T>A (p.Phe1105Ile) rs1569535623
NM_001001344.3(ATP2B3):c.3316C>T (p.Arg1106Trp) rs1227019809
NM_001001344.3(ATP2B3):c.3320G>A (p.Gly1107Asp) rs397514619
NM_001001344.3(ATP2B3):c.3594G>T (p.Lys1198Asn) rs782596945
NM_001001344.3(ATP2B3):c.472G>T (p.Ala158Ser)
NM_001001344.3(ATP2B3):c.4G>A (p.Gly2Ser)
NM_001001344.3(ATP2B3):c.665-116A>G rs2980012

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