ClinVar Miner

List of variants reported as likely benign for cerebellar disorder by Schule lab, Hertie Institute for Clinical Brain Research

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
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.1606C>T (p.Leu536Phe) rs1553681680
NM_001378452.1(ITPR1):c.5025A>C (p.Glu1675Asp) rs1553706329

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