ClinVar Miner

List of variants in gene ITPR3 reported as likely benign for not provided

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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_002224.4(ITPR3):c.6883G>A (p.Val2295Met) rs59525809 0.00317
NM_002224.4(ITPR3):c.628-5C>T rs147723375 0.00314
NM_002224.4(ITPR3):c.7608G>A (p.Thr2536=) rs75810069 0.00308
NM_002224.4(ITPR3):c.4225-3C>T rs202199707 0.00225
NM_002224.4(ITPR3):c.5809G>A (p.Val1937Ile) rs146844329 0.00192
NM_002224.4(ITPR3):c.4014T>A (p.Asp1338Glu) rs147873398 0.00185
NM_002224.4(ITPR3):c.4317G>A (p.Thr1439=) rs148020704 0.00145
NM_002224.4(ITPR3):c.5524T>C (p.Tyr1842His) rs144737770 0.00114
NM_002224.4(ITPR3):c.528C>T (p.Asn176=) rs116499996 0.00111
NM_002224.4(ITPR3):c.3514G>A (p.Val1172Ile) rs147513071 0.00099
NM_002224.4(ITPR3):c.4735G>A (p.Val1579Ile) rs141508541 0.00092
NM_002224.4(ITPR3):c.2586+8G>T rs202227435 0.00089
NM_002224.4(ITPR3):c.1148+10C>T rs73746705 0.00056
NM_002224.4(ITPR3):c.3048C>T (p.Phe1016=) rs146528103 0.00056
NM_002224.4(ITPR3):c.5886C>T (p.His1962=) rs145776727 0.00054
NM_002224.4(ITPR3):c.252C>T (p.Ile84=) rs141238136 0.00051
NM_002224.4(ITPR3):c.1010C>T (p.Ala337Val) rs200701659 0.00029
NM_002224.4(ITPR3):c.6159C>T (p.Ile2053=) rs368723045 0.00017
NM_002224.4(ITPR3):c.3448-7C>G rs775353364 0.00012
NM_002224.4(ITPR3):c.5307+10G>T rs369236448 0.00007
NM_002224.4(ITPR3):c.6372C>T (p.Ile2124=) rs138913026 0.00006
NM_002224.4(ITPR3):c.2047C>T (p.Leu683=) rs759721342 0.00004
NM_002224.4(ITPR3):c.4023G>A (p.Ser1341=) rs200839037 0.00004
NM_002224.4(ITPR3):c.5037C>T (p.Tyr1679=) rs370345835 0.00004
NM_002224.4(ITPR3):c.2433C>T (p.Thr811=) rs758670025 0.00003
NM_002224.4(ITPR3):c.7032+7C>A rs533951005 0.00002
NM_002224.4(ITPR3):c.3084C>T (p.Ile1028=) rs200175768 0.00001
NM_002224.4(ITPR3):c.3762C>T (p.Leu1254=) rs1449463409 0.00001
NM_002224.4(ITPR3):c.4842G>C (p.Leu1614=) rs374522394 0.00001
NM_002224.4(ITPR3):c.5109G>C (p.Arg1703=) rs1466282042 0.00001
NM_002224.4(ITPR3):c.5466C>T (p.Val1822=) rs769011935 0.00001
NM_002224.4(ITPR3):c.5668-5C>T rs557901979 0.00001
NM_002224.4(ITPR3):c.7560C>T (p.Phe2520=) rs755892219 0.00001
NM_002224.4(ITPR3):c.1409+8_1409+23del
NM_002224.4(ITPR3):c.2226C>A (p.Asp742Glu) rs2229633
NM_002224.4(ITPR3):c.282+4TG[7] rs149835704
NM_002224.4(ITPR3):c.288G>A (p.Ala96=) rs1422839378
NM_002224.4(ITPR3):c.309A>G (p.Gln103=)
NM_002224.4(ITPR3):c.3570G>A (p.Arg1190=) rs1181668563
NM_002224.4(ITPR3):c.3987T>C (p.Gly1329=)
NM_002224.4(ITPR3):c.4772T>C (p.Ile1591Thr)
NM_002224.4(ITPR3):c.5106G>A (p.Ser1702=)
NM_002224.4(ITPR3):c.5121C>T (p.Pro1707=) rs530635891
NM_002224.4(ITPR3):c.5213G>A (p.Cys1738Tyr)
NM_002224.4(ITPR3):c.534C>T (p.Val178=)
NM_002224.4(ITPR3):c.5560G>A (p.Val1854Met)
NM_002224.4(ITPR3):c.5799C>T (p.Asn1933=)
NM_002224.4(ITPR3):c.5868+8G>C rs780086266
NM_002224.4(ITPR3):c.6096C>A (p.Ala2032=) rs1319975482
NM_002224.4(ITPR3):c.6126G>A (p.Ser2042=)
NM_002224.4(ITPR3):c.6321GGA[3] (p.Glu2111del)
NM_002224.4(ITPR3):c.6363G>A (p.Thr2121=) rs1582164520
NM_002224.4(ITPR3):c.6576G>A (p.Pro2192=)
NM_002224.4(ITPR3):c.699G>A (p.Glu233=)
NM_002224.4(ITPR3):c.7033-7C>T
NM_002224.4(ITPR3):c.7236G>C (p.Leu2412=) rs762779797

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