ClinVar Miner

List of variants reported as benign for Intellectual disability, autosomal dominant 8 by Invitae

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_007327.4(GRIN1):c.1467+8G>A rs10747050 0.95319
NM_007327.4(GRIN1):c.789A>G (p.Pro263=) rs6293 0.23665
NM_007327.4(GRIN1):c.855G>A (p.Val285=) rs1126442 0.23587
NM_007327.4(GRIN1):c.2241G>C (p.Val747=) rs116354349 0.01638
NM_007327.4(GRIN1):c.2244G>C (p.Thr748=) rs79570612 0.01637
NM_007327.4(GRIN1):c.1340-18_1340-17insGTA rs199804460 0.00721
NM_007327.4(GRIN1):c.1548G>A (p.Pro516=) rs75783429 0.00518
NM_007327.4(GRIN1):c.1584G>A (p.Glu528=) rs116006955 0.00510
NM_007327.4(GRIN1):c.394-11G>A rs75081117 0.00274
NM_007327.4(GRIN1):c.525G>A (p.Ala175=) rs77812749 0.00163
NM_007327.4(GRIN1):c.1809G>C (p.Leu603=) rs141249927 0.00153
NM_007327.4(GRIN1):c.258+18C>T rs202160831 0.00130
NM_007327.4(GRIN1):c.570+10G>A rs200924771 0.00078
NM_007327.4(GRIN1):c.1632+14G>A rs200337681 0.00065
NM_007327.4(GRIN1):c.768G>C (p.Gly256=) rs141473515 0.00059
NM_007327.4(GRIN1):c.1513C>T (p.Leu505=) rs139637382 0.00051
NM_007327.4(GRIN1):c.1864+17C>T rs199730840 0.00039
NM_007327.4(GRIN1):c.1044C>T (p.Phe348=) rs143483243 0.00026
NM_007327.4(GRIN1):c.693A>C (p.Val231=) rs201818201 0.00025
NM_007327.4(GRIN1):c.394-19G>A rs371244693 0.00021
NM_007327.4(GRIN1):c.1340C>A (p.Pro447His) rs587780348 0.00014
NM_007327.4(GRIN1):c.1632+8G>C rs762558895 0.00011
NM_007327.4(GRIN1):c.1865-13C>T rs201908310 0.00009
NM_007327.4(GRIN1):c.2328C>T (p.Ile776=) rs200088954 0.00008
NM_007327.4(GRIN1):c.1131G>A (p.Arg377=) rs778284712 0.00007
NM_007327.4(GRIN1):c.1198-7C>T rs202163066 0.00006
NM_007327.4(GRIN1):c.2333+9C>A rs201316377 0.00006
NM_007327.4(GRIN1):c.570+13G>A rs200081727 0.00005
NM_007327.4(GRIN1):c.1113C>T (p.His371=) rs150508714 0.00004
NM_007327.4(GRIN1):c.246C>T (p.Leu82=) rs192006771 0.00004
NM_007327.4(GRIN1):c.507C>T (p.Asp169=) rs199720207 0.00004
NM_007327.4(GRIN1):c.570+12C>T rs201869639 0.00004
NM_007327.4(GRIN1):c.614C>T (p.Thr205Met) rs201592328 0.00003
NM_007327.4(GRIN1):c.1108A>G (p.Thr370Ala) rs746527135 0.00001
NM_007327.4(GRIN1):c.1149C>T (p.Gly383=) rs138398771 0.00001
NM_007327.4(GRIN1):c.1335C>T (p.Gly445=) rs370360183 0.00001
NM_007327.4(GRIN1):c.1468-8C>A rs1588729972 0.00001
NM_007327.4(GRIN1):c.1516C>T (p.Leu506Phe) rs778079350 0.00001
NM_007327.4(GRIN1):c.154C>G (p.Arg52Gly) rs950054021 0.00001
NM_007327.4(GRIN1):c.1716G>A (p.Val572=) rs151030252 0.00001
NM_007327.4(GRIN1):c.2172-18C>G rs759465840 0.00001
NM_007327.4(GRIN1):c.2334G>A (p.Lys778=) rs1176826197 0.00001
NM_007327.4(GRIN1):c.237C>T (p.Cys79=) rs200529044 0.00001
NM_007327.4(GRIN1):c.264C>T (p.Tyr88=) rs199679287 0.00001
NM_007327.4(GRIN1):c.700G>A (p.Ala234Thr) rs1464941427 0.00001
NM_007327.4(GRIN1):c.864G>A (p.Val288=) rs770852927 0.00001
NM_007327.4(GRIN1):c.969-3T>C rs771650497 0.00001
NM_007327.4(GRIN1):c.992C>T (p.Ala331Val) rs201324316 0.00001
NM_007327.4(GRIN1):c.1075C>T (p.Arg359Cys)
NM_007327.4(GRIN1):c.1098C>G (p.Ile366Met) rs778196924
NM_007327.4(GRIN1):c.1099T>C (p.Tyr367His) rs2131279971
NM_007327.4(GRIN1):c.1168C>G (p.Arg390Gly) rs927186701
NM_007327.4(GRIN1):c.1198-3del rs762423431
NM_007327.4(GRIN1):c.1339+7GCGCGGGGCAGGGCGCGGG[3] rs761110882
NM_007327.4(GRIN1):c.1340-17C>A rs555815195
NM_007327.4(GRIN1):c.139A>T (p.Asn47Tyr) rs1347150317
NM_007327.4(GRIN1):c.1458A>G (p.Thr486=)
NM_007327.4(GRIN1):c.1605C>T (p.Tyr535=)
NM_007327.4(GRIN1):c.1632+17_1632+23del rs756425137
NM_007327.4(GRIN1):c.1865-13del rs772767449
NM_007327.4(GRIN1):c.1894C>T (p.Leu632=)
NM_007327.4(GRIN1):c.22A>C (p.Thr8Pro)
NM_007327.4(GRIN1):c.23C>T (p.Thr8Met)
NM_007327.4(GRIN1):c.2586G>A (p.Leu862=)
NM_007327.4(GRIN1):c.2614C>G (p.Pro872Ala) rs1833802873
NM_007327.4(GRIN1):c.742C>T (p.Leu248=)
NM_007327.4(GRIN1):c.793+23dup
NM_007327.4(GRIN1):c.879C>G (p.His293Gln) rs746040843

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