ClinVar Miner

List of variants studied for X-linked cerebellar ataxia

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 60
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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_002024.6(FMR1):c.414G>A (p.Arg138=) rs25707 0.10515
NM_001271696.3(ABCB7):c.1739C>T (p.Ala580Val) rs1340989 0.08733
NM_002024.6(FMR1):c.433G>T (p.Ala145Ser) rs29281 0.02758
NM_001001344.3(ATP2B3):c.407-6G>A rs139607201 0.01600
NM_001271696.3(ABCB7):c.945-7C>T rs5937938 0.00961
NM_002024.6(FMR1):c.18G>T (p.Val6=) rs111485627 0.00830
NM_001001344.3(ATP2B3):c.3052-5C>T rs189012896 0.00714
NM_001271696.3(ABCB7):c.201G>C (p.Gln67His) rs114142266 0.00447
NM_001271696.3(ABCB7):c.312C>T (p.Leu104=) rs140031135 0.00412
NM_001001344.3(ATP2B3):c.3518C>T (p.Ala1173Val) rs149428057 0.00320
NM_001271696.3(ABCB7):c.938G>A (p.Arg313Gln) rs147584361 0.00272
NM_001271696.3(ABCB7):c.1492G>A (p.Gly498Arg) rs151288786 0.00187
NM_001271696.3(ABCB7):c.1032+12A>G rs148980611 0.00087
NM_001271696.3(ABCB7):c.*113A>G rs916633787 0.00024
NM_001271696.3(ABCB7):c.211A>G (p.Lys71Glu) rs201842753 0.00004
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_001271696.3(ABCB7):c.1935+5G>C rs763223675 0.00002
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_001271696.3(ABCB7):c.1230A>G (p.Leu410=) rs1175852840 0.00001
NM_001271696.3(ABCB7):c.168+13T>C rs1057515989 0.00001
NM_001271696.3(ABCB7):c.1802A>G (p.Gln601Arg) rs141119655 0.00001
NM_001271696.3(ABCB7):c.2066C>T (p.Thr689Ile) rs768257406 0.00001
NM_001271696.3(ABCB7):c.2073T>C (p.His691=) rs781524899 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
NM_001271696.3(ABCB7):c.1106A>G (p.Lys369Arg)
NM_001271696.3(ABCB7):c.1200T>C (p.Ile400=) rs72554634
NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met) rs72554634
NM_001271696.3(ABCB7):c.1231G>C (p.Val411Leu) rs80356713
NM_001271696.3(ABCB7):c.1235T>C (p.Met412Thr) rs1057518042
NM_001271696.3(ABCB7):c.1297G>A (p.Glu433Lys) rs80356714
NM_001271696.3(ABCB7):c.168+69C>G rs1039123
NM_001271696.3(ABCB7):c.1936-3C>G rs1602330362
NM_001271696.3(ABCB7):c.358A>G (p.Ile120Val)
NM_001271696.3(ABCB7):c.624A>T (p.Glu208Asp) rs515726147
NM_001271696.3(ABCB7):c.944+3A>G rs2081385144
NM_002024.6(FMR1):c.-128GGC[55_200]
NM_002024.6(FMR1):c.1622_1636del (p.Gln541_Gly545del)
NM_002024.6:c.-128GGM[55_?]

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