ClinVar Miner

List of variants in gene ITPR1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr) rs201144431 0.00071
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile) rs188558398 0.00048
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.532A>G (p.Ile178Val) rs188477537 0.00023
NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr) rs373694009 0.00019
NM_001378452.1(ITPR1):c.4843-7G>A rs184969640 0.00016
NM_001378452.1(ITPR1):c.2299C>T (p.Arg767Cys) rs377248442 0.00011
NM_001378452.1(ITPR1):c.3457A>G (p.Met1153Val) rs199698357 0.00011
NM_001378452.1(ITPR1):c.5905G>A (p.Ala1969Thr) rs369005032 0.00006
NM_001378452.1(ITPR1):c.6448G>A (p.Gly2150Ser) rs199890939 0.00004
NM_001378452.1(ITPR1):c.4233G>A (p.Pro1411=) rs373572745 0.00003
NM_001378452.1(ITPR1):c.634G>A (p.Val212Ile) rs774735244 0.00002
NM_001378452.1(ITPR1):c.8248A>G (p.Met2750Val) rs201934670 0.00002
NM_001378452.1(ITPR1):c.3215G>A (p.Arg1072His) rs2094336496 0.00001
NM_001378452.1(ITPR1):c.4015A>G (p.Met1339Val) rs372380638 0.00001
NM_001378452.1(ITPR1):c.7123A>G (p.Ile2375Val) rs777957075 0.00001
NM_001378452.1(ITPR1):c.1033C>A (p.Arg345=) rs369055445
NM_001378452.1(ITPR1):c.1152-7C>T
NM_001378452.1(ITPR1):c.1603A>G (p.Met535Val)
NM_001378452.1(ITPR1):c.2399C>T (p.Thr800Ile) rs768078525
NM_001378452.1(ITPR1):c.2659C>G (p.Arg887Gly)
NM_001378452.1(ITPR1):c.273A>C (p.Lys91Asn)
NM_001378452.1(ITPR1):c.2773C>G (p.Leu925Val) rs761743436
NM_001378452.1(ITPR1):c.2806G>A (p.Gly936Ser) rs1559671950
NM_001378452.1(ITPR1):c.3873C>T (p.Phe1291=) rs567943387
NM_001378452.1(ITPR1):c.4125G>A (p.Met1375Ile)
NM_001378452.1(ITPR1):c.4126G>A (p.Asp1376Asn)
NM_001378452.1(ITPR1):c.4424G>T (p.Ser1475Ile) rs1206311675
NM_001378452.1(ITPR1):c.4663A>T (p.Ser1555Cys) rs1290207637
NM_001378452.1(ITPR1):c.5274T>C (p.Pro1758=) rs2125317960
NM_001378452.1(ITPR1):c.5282G>A (p.Arg1761Gln) rs2291864
NM_001378452.1(ITPR1):c.5286A>G (p.Arg1762=) rs2125317989
NM_001378452.1(ITPR1):c.5908G>A (p.Val1970Ile)
NM_001378452.1(ITPR1):c.6292-8C>G
NM_001378452.1(ITPR1):c.6416A>G (p.Gln2139Arg) rs2046910253
NM_001378452.1(ITPR1):c.6419G>A (p.Gly2140Asp) rs2046910377
NM_001378452.1(ITPR1):c.7024C>T (p.Arg2342Trp)
NM_001378452.1(ITPR1):c.7331G>T (p.Arg2444Leu)
NM_001378452.1(ITPR1):c.7523A>C (p.Glu2508Ala)
NM_001378452.1(ITPR1):c.7536C>A (p.Asn2512Lys)

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