ClinVar Miner

List of variants in gene ITPR1 reported as likely benign for cerebellar degeneration

Included ClinVar conditions (78):
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Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_001378452.1(ITPR1):c.1302G>A (p.Pro434=) rs34252981 0.01036
NM_001378452.1(ITPR1):c.1554+17G>A rs80123990 0.01028
NM_001378452.1(ITPR1):c.2433T>A (p.Ile811=) rs145220403 0.00924
NM_001378452.1(ITPR1):c.7509T>C (p.Asp2503=) rs79720149 0.00191
NM_001378452.1(ITPR1):c.3461A>G (p.Asp1154Gly) rs61751570 0.00168
NM_001378452.1(ITPR1):c.4843-8C>T rs41304179 0.00119
NM_001378452.1(ITPR1):c.4254G>T (p.Val1418=) rs142527379 0.00107
NM_001378452.1(ITPR1):c.*1198C>T rs367636150 0.00102
NM_001378452.1(ITPR1):c.3057A>G (p.Ser1019=) rs200705345 0.00090
NM_001378452.1(ITPR1):c.6912G>A (p.Pro2304=) rs200426774 0.00063
NM_001378452.1(ITPR1):c.3945T>C (p.Asn1315=) rs193212750 0.00051
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile) rs188558398 0.00048
NM_001378452.1(ITPR1):c.66G>A (p.Ser22=) rs112944532 0.00048
NM_001378452.1(ITPR1):c.2732C>T (p.Ala911Val) rs201519806 0.00044
NM_001378452.1(ITPR1):c.4474G>A (p.Val1492Ile) rs200646875 0.00037
NM_001378452.1(ITPR1):c.7098C>T (p.Gly2366=) rs41290672 0.00034
NM_001378452.1(ITPR1):c.6349G>T (p.Ala2117Ser) rs373973399 0.00032
NM_001378452.1(ITPR1):c.141C>T (p.Asn47=) rs370939479 0.00031
NM_001378452.1(ITPR1):c.7986C>T (p.Thr2662=) rs368405302 0.00029
NM_001378452.1(ITPR1):c.5766T>C (p.Asp1922=) rs201311531 0.00027
NM_001378452.1(ITPR1):c.7389C>T (p.Phe2463=) rs200487406 0.00021
NM_002222.6(ITPR1):c.*1611G>A rs565800630 0.00021
NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr) rs373694009 0.00019
NM_001378452.1(ITPR1):c.1951C>T (p.Leu651=) rs375234629 0.00016
NM_001378452.1(ITPR1):c.1034G>A (p.Arg345Gln) rs201804963 0.00014
NM_001378452.1(ITPR1):c.2616G>A (p.Arg872=) rs375533002 0.00014
NM_001378452.1(ITPR1):c.3669G>A (p.Val1223=) rs201263269 0.00014
NM_001378452.1(ITPR1):c.6180+11T>A rs772860677 0.00013
NM_001378452.1(ITPR1):c.1886+14G>A rs370584403 0.00011
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.5335G>A (p.Gly1779Ser) rs369108656 0.00007
NM_001378452.1(ITPR1):c.693C>T (p.Asp231=) rs545754582 0.00005
NM_001378452.1(ITPR1):c.3195C>T (p.His1065=) rs745351516 0.00004
NM_001378452.1(ITPR1):c.4435C>T (p.His1479Tyr) rs943946433 0.00003
NM_001378452.1(ITPR1):c.3514C>G (p.Pro1172Ala) rs773251870 0.00002
NM_001378452.1(ITPR1):c.1497C>T (p.Phe499=) rs778521012 0.00001
NM_001378452.1(ITPR1):c.*356TG[1] rs113825412
NM_001378452.1(ITPR1):c.*814_*817dup rs148070806
NM_001378452.1(ITPR1):c.-2A>G rs369723935
NM_001378452.1(ITPR1):c.1606C>T (p.Leu536Phe) rs1553681680
NM_001378452.1(ITPR1):c.2427G>A (p.Ser809=) rs553559062
NM_001378452.1(ITPR1):c.3705C>T (p.Ala1235=) rs34635052
NM_001378452.1(ITPR1):c.4992-7del rs546612625
NM_001378452.1(ITPR1):c.5025A>C (p.Glu1675Asp) rs1553706329
NM_001378452.1(ITPR1):c.8190+13_8190+14del rs552585900
NM_002222.6(ITPR1):c.*1366C>A rs146958900

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