ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 27

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_000834.5(GRIN2B):c.366C>G (p.Pro122=) rs7301328 0.41972
NM_000834.5(GRIN2B):c.3534C>T (p.His1178=) rs1806191 0.39095
NM_000834.5(GRIN2B):c.1665C>T (p.Ser555=) rs1805482 0.26553
NM_000834.5(GRIN2B):c.4197T>C (p.His1399=) rs1805247 0.16667
NM_000834.5(GRIN2B):c.3076G>A (p.Gly1026Ser) rs201963596 0.00011
NM_000834.5(GRIN2B):c.3796C>T (p.Pro1266Ser) rs199935748 0.00004
NM_000834.5(GRIN2B):c.3028C>T (p.Pro1010Ser) rs956362869 0.00002
NM_000834.5(GRIN2B):c.1555C>T (p.Arg519Ter) rs774592932 0.00001
NM_000834.5(GRIN2B):c.163G>A (p.Glu55Lys) rs763469464 0.00001
NM_000834.5(GRIN2B):c.2627C>T (p.Ala876Val) rs1458368988 0.00001
NM_000834.5(GRIN2B):c.2699G>A (p.Arg900His) rs202223088 0.00001
NM_000834.5(GRIN2B):c.1237G>C (p.Glu413Gln) rs1555112356
NM_000834.5(GRIN2B):c.1495G>A (p.Gly499Arg) rs867553974
NM_000834.5(GRIN2B):c.1547A>G (p.Asn516Ser) rs886041295
NM_000834.5(GRIN2B):c.1577del (p.Ser526fs)
NM_000834.5(GRIN2B):c.157G>T (p.Ala53Ser) rs2497983980
NM_000834.5(GRIN2B):c.1598G>A (p.Gly533Asp) rs1060499659
NM_000834.5(GRIN2B):c.1621A>G (p.Ser541Gly) rs2497597907
NM_000834.5(GRIN2B):c.1628_1633del (p.Gly543_Thr544del) rs2497597872
NM_000834.5(GRIN2B):c.1648T>C (p.Phe550Leu) rs2497597825
NM_000834.5(GRIN2B):c.1658C>T (p.Pro553Leu) rs397514556
NM_000834.5(GRIN2B):c.1664G>A (p.Ser555Asn) rs1949369220
NM_000834.5(GRIN2B):c.1820G>C (p.Trp607Ser) rs1591638805
NM_000834.5(GRIN2B):c.1844A>T (p.Asn615Ile) rs672601377
NM_000834.5(GRIN2B):c.1853T>G (p.Val618Gly) rs672601376
NM_000834.5(GRIN2B):c.1927C>A (p.Leu643Met) rs2497583145
NM_000834.5(GRIN2B):c.1937A>G (p.Tyr646Cys) rs1565474582
NM_000834.5(GRIN2B):c.1946A>G (p.Asn649Ser) rs879253945
NM_000834.5(GRIN2B):c.1957T>C (p.Phe653Leu) rs2497583047
NM_000834.5(GRIN2B):c.1961T>G (p.Met654Arg) rs1949320254
NM_000834.5(GRIN2B):c.1963A>G (p.Ile655Val) rs1949320223
NM_000834.5(GRIN2B):c.1966C>T (p.Gln656Ter) rs1135401799
NM_000834.5(GRIN2B):c.2002G>A (p.Asp668Asn) rs876661151
NM_000834.5(GRIN2B):c.2009A>T (p.Lys670Met) rs2497582878
NM_000834.5(GRIN2B):c.2010G>A (p.Lys670=) rs1369104116
NM_000834.5(GRIN2B):c.2053A>C (p.Thr685Pro) rs869312669
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser) rs869312868
NM_000834.5(GRIN2B):c.2086C>T (p.Arg696Cys) rs2497485773
NM_000834.5(GRIN2B):c.2197G>C (p.Ala733Pro) rs2136413399
NM_000834.5(GRIN2B):c.2198C>A (p.Ala733Glu) rs2497482397
NM_000834.5(GRIN2B):c.2273_2281del (p.Ala758_Thr760del) rs1565457062
NM_000834.5(GRIN2B):c.2392A>C (p.Thr798Pro) rs1948653017
NM_000834.5(GRIN2B):c.2429G>A (p.Ser810Asn) rs1591609136
NM_000834.5(GRIN2B):c.2450A>G (p.Asn817Ser) rs1555103159
NM_000834.5(GRIN2B):c.2452A>G (p.Met818Val) rs876661076
NM_000834.5(GRIN2B):c.2455G>A (p.Ala819Thr) rs1948652117
NM_000834.5(GRIN2B):c.2470A>G (p.Met824Val) rs2497476034
NM_000834.5(GRIN2B):c.2510T>C (p.Ile837Thr) rs1565455844
NM_000834.5(GRIN2B):c.2539C>T (p.Arg847Ter) rs879253931
NM_000834.5(GRIN2B):c.2551A>T (p.Met851Leu) rs1948649948
NM_000834.5(GRIN2B):c.2555G>A (p.Gly852Asp) rs1168374610
NM_000834.5(GRIN2B):c.2639G>A (p.Arg880His) rs904771425
NM_000834.5(GRIN2B):c.2749T>G (p.Ser917Ala) rs2136406174
NM_000834.5(GRIN2B):c.3073A>T (p.Ile1025Phe) rs2136405492
NM_000834.5(GRIN2B):c.3272A>C (p.Lys1091Thr) rs2497469416
NM_000834.5(GRIN2B):c.3352G>T (p.Asp1118Tyr) rs2136404881
NM_000834.5(GRIN2B):c.3388C>T (p.Arg1130Trp) rs1320154351
NM_000834.5(GRIN2B):c.3470A>G (p.Glu1157Gly) rs1565453853
NM_000834.5(GRIN2B):c.3632G>A (p.Gly1211Glu) rs1255161034
NM_000834.5(GRIN2B):c.3646C>T (p.Arg1216Cys) rs199834850
NM_000834.5(GRIN2B):c.3839A>C (p.Lys1280Thr)
NM_000834.5(GRIN2B):c.4208C>G (p.Ser1403Cys) rs1948569956
NM_000834.5(GRIN2B):c.4307G>C (p.Gly1436Ala) rs1565452616
NM_000834.5(GRIN2B):c.4312G>A (p.Val1438Met) rs763699668
NM_000834.5(GRIN2B):c.4386del (p.Arg1463fs)
NM_000834.5(GRIN2B):c.718A>G (p.Ile240Val) rs2136629212

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