ClinVar Miner

List of variants studied for Spinocerebellar ataxia type 29

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_001378452.1(ITPR1):c.6111T>C (p.Asn2037=) rs6442905 0.96699
NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=) rs711631 0.80127
NM_001378452.1(ITPR1):c.5169T>C (p.Thr1723=) rs7613447 0.68442
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=) rs2306875 0.68068
NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=) rs901854 0.59379
NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=) rs2306877 0.26698
NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=) rs2291862 0.24351
NM_001378452.1(ITPR1):c.3461A>G (p.Asp1154Gly) rs61751570 0.00168
NM_001378452.1(ITPR1):c.2732C>T (p.Ala911Val) rs201519806 0.00044
NM_001378452.1(ITPR1):c.6349G>T (p.Ala2117Ser) rs373973399 0.00032
NM_001378452.1(ITPR1):c.3457A>G (p.Met1153Val) rs199698357 0.00011
NM_001378452.1(ITPR1):c.4435C>T (p.His1479Tyr) rs943946433 0.00003
NM_001378452.1(ITPR1):c.2843G>A (p.Gly948Glu) rs1443276640 0.00001
NM_001378452.1(ITPR1):c.3199G>A (p.Gly1067Ser) rs776099053 0.00001
NM_001378452.1(ITPR1):c.106C>T (p.Arg36Cys) rs2124927471
NM_001378452.1(ITPR1):c.1127G>C (p.Arg376Pro) rs1260045423
NM_001378452.1(ITPR1):c.1176C>G (p.His392Gln) rs2093820776
NM_001378452.1(ITPR1):c.1510A>G (p.Arg504Gly) rs2093873520
NM_001378452.1(ITPR1):c.1534G>A (p.Glu512Lys) rs2125193560
NM_001378452.1(ITPR1):c.1606C>T (p.Leu536Phe) rs1553681680
NM_001378452.1(ITPR1):c.1702A>G (p.Arg568Gly) rs1322796318
NM_001378452.1(ITPR1):c.1804A>G (p.Asn602Asp) rs397514536
NM_001378452.1(ITPR1):c.1813C>G (p.Leu605Val)
NM_001378452.1(ITPR1):c.2806G>A (p.Gly936Ser) rs1559671950
NM_001378452.1(ITPR1):c.319A>G (p.Asn107Asp) rs2093283649
NM_001378452.1(ITPR1):c.4243A>T (p.Ile1415Phe) rs762136714
NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met) rs1559718601
NM_001378452.1(ITPR1):c.4407+44GT[18] rs35795762
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met) rs397514535
NM_001378452.1(ITPR1):c.4691T>C (p.Leu1564Pro) rs2125272771
NM_001378452.1(ITPR1):c.5025A>C (p.Glu1675Asp) rs1553706329
NM_001378452.1(ITPR1):c.5504T>C (p.Leu1835Pro) rs1114167316
NM_001378452.1(ITPR1):c.5616G>A (p.Met1872Ile) rs1002376493
NM_001378452.1(ITPR1):c.6206A>G (p.Asn2069Ser) rs1360324926
NM_001378452.1(ITPR1):c.722G>A (p.Arg241Lys) rs2125159664
NM_001378452.1(ITPR1):c.7352T>C (p.Leu2451Pro) rs1553756062
NM_001378452.1(ITPR1):c.736G>A (p.Glu246Lys) rs1553666546
NM_001378452.1(ITPR1):c.742_744del (p.Glu248del) rs1559603328
NM_001378452.1(ITPR1):c.755C>T (p.Thr252Ile) rs2125159718
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg) rs1553757628
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg) rs752281590
NM_001378452.1(ITPR1):c.7766T>C (p.Val2589Ala) rs2049205080
NM_001378452.1(ITPR1):c.7784G>C (p.Gly2595Ala) rs869312685
NM_001378452.1(ITPR1):c.7793T>C (p.Ile2598Thr) rs1553758021
NM_001378452.1(ITPR1):c.7798A>C (p.Thr2600Pro) rs2106494596
NM_001378452.1(ITPR1):c.800C>G (p.Thr267Arg) rs797044955
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met) rs797044955
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378452.1(ITPR1):c.830G>T (p.Ser277Ile) rs863224882
NM_001378452.1(ITPR1):c.951+35G>C rs6442895

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