ClinVar Miner

List of variants in gene ITPR1 reported as uncertain significance by Baylor Genetics

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001378452.1(ITPR1):c.5270G>C (p.Arg1757Thr) rs949938763 0.00003
NM_001378452.1(ITPR1):c.5875G>A (p.Asp1959Asn) rs773864227 0.00003
NM_001378452.1(ITPR1):c.4541G>A (p.Arg1514His) rs749048534 0.00002
NM_001378452.1(ITPR1):c.3026G>A (p.Arg1009Gln) rs1574832115 0.00001
NM_001378452.1(ITPR1):c.3206C>T (p.Thr1069Ile) rs747698039 0.00001
NM_001378452.1(ITPR1):c.3830T>A (p.Ile1277Asn) rs773030719 0.00001
NM_001378452.1(ITPR1):c.4438G>A (p.Ala1480Thr) rs1392354334 0.00001
NM_001378452.1(ITPR1):c.1176C>G (p.His392Gln) rs2093820776
NM_001378452.1(ITPR1):c.1600C>A (p.Pro534Thr) rs2093919890
NM_001378452.1(ITPR1):c.2473G>A (p.Ala825Thr) rs2094142451
NM_001378452.1(ITPR1):c.319A>G (p.Asn107Asp) rs2093283649
NM_001378452.1(ITPR1):c.443G>A (p.Arg148Lys) rs2093352735
NM_001378452.1(ITPR1):c.692A>T (p.Asp231Val)
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met) rs797044955
NM_001378452.1(ITPR1):c.833C>T (p.Ser278Leu)

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