ClinVar Miner

List of variants reported as likely benign for History of neurodevelopmental disorder by Ambry Genetics

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Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_001110556.2(FLNA):c.2433C>T (p.Ala811=) rs35986650 0.01258
NM_001330078.2(NRXN1):c.3408G>A (p.Thr1136=) rs80094872 0.00737
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895 0.00698
NM_007137.5(ZNF81):c.129A>G (p.Arg43=) rs148626389 0.00663
NM_002764.4(PRPS1):c.456A>G (p.Leu152=) rs61735617 0.00632
NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=) rs79970751 0.00503
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val) rs141441058 0.00470
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693 0.00446
NM_016032.4(ZDHHC9):c.975C>T (p.Ser325=) rs139619000 0.00414
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser) rs143037290 0.00369
NM_000330.4(RS1):c.184+3118C>T rs139155110 0.00352
NM_000330.4(RS1):c.184+3199G>A rs36022183 0.00345
NM_001123385.2(BCOR):c.408C>T (p.Ala136=) rs139802143 0.00258
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=) rs150392503 0.00253
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616 0.00210
NM_000719.7(CACNA1C):c.1176G>T (p.Gly392=) rs1051360 0.00209
NM_000719.7(CACNA1C):c.1794C>T (p.Gly598=) rs116491041 0.00200
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423 0.00200
NM_004840.3(ARHGEF6):c.169T>C (p.Cys57Arg) rs147131853 0.00200
NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=) rs113380721 0.00191
NM_001244008.2(KIF1A):c.3085G>A (p.Val1029Met) rs183359489 0.00160
NM_020717.5(SHROOM4):c.1879C>T (p.Pro627Ser) rs150861758 0.00151
NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=) rs200195310 0.00141
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642 0.00140
NM_001110556.2(FLNA):c.942A>G (p.Gly314=) rs200763980 0.00138
NM_007137.5(ZNF81):c.550C>G (p.Leu184Val) rs113131552 0.00135
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230 0.00131
NM_014271.4(IL1RAPL1):c.12G>A (p.Pro4=) rs143600441 0.00127
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721 0.00118
NM_001330078.2(NRXN1):c.4254A>G (p.Pro1418=) rs55923848 0.00109
NM_005333.5(HCCS):c.216G>C (p.Ala72=) rs144152239 0.00106
NM_005120.3(MED12):c.3204C>T (p.Pro1068=) rs201807437 0.00104
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=) rs56394008 0.00096
NM_001330078.2(NRXN1):c.4275G>T (p.Arg1425=) rs143495349 0.00096
NM_001330574.2(ZNF711):c.453A>C (p.Gly151=) rs139906124 0.00096
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) rs111606207 0.00083
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=) rs61753012 0.00081
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=) rs200048692 0.00071
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764 0.00069
NM_002764.4(PRPS1):c.447G>A (p.Pro149=) rs80338730 0.00068
NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) rs200835571 0.00065
NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=) rs200330469 0.00063
NM_000719.7(CACNA1C):c.5451C>T (p.His1817=) rs113239186 0.00063
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) rs146692150 0.00060
NM_001110556.2(FLNA):c.3876C>T (p.His1292=) rs199917719 0.00060
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517 0.00059
NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=) rs201488545 0.00056
NM_020717.5(SHROOM4):c.3504C>T (p.Thr1168=) rs141453548 0.00056
NM_006950.3(SYN1):c.426A>G (p.Lys142=) rs145911562 0.00054
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_133433.4(NIPBL):c.8337G>A (p.Thr2779=) rs139108785 0.00047
NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=) rs184684058 0.00045
NM_000719.7(CACNA1C):c.966C>T (p.His322=) rs112539787 0.00042
NM_001110792.2(MECP2):c.870C>T (p.Ala290=) rs61750248 0.00041
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser) rs138991195 0.00039
NM_001330078.2(NRXN1):c.4392T>C (p.His1464=) rs112536447 0.00035
NM_000719.7(CACNA1C):c.984C>T (p.Asn328=) rs374050127 0.00029
NM_014467.3(SRPX2):c.737G>A (p.Arg246Gln) rs146063801 0.00026
NM_000719.7(CACNA1C):c.5478G>A (p.Ala1826=) rs200283756 0.00023
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788 0.00023
NM_001134407.3(GRIN2A):c.2202C>G (p.Val734=) rs367543138 0.00023
NM_001379110.1(SLC9A6):c.1083G>A (p.Leu361=) rs151178361 0.00022
NM_006950.3(SYN1):c.939C>T (p.Asp313=) rs373928763 0.00020
NM_001110792.2(MECP2):c.429C>G (p.Ala143=) rs61748385 0.00018
NM_014467.3(SRPX2):c.1221A>G (p.Gln407=) rs375935170 0.00017
NM_001110556.2(FLNA):c.1812C>T (p.Asp604=) rs370735674 0.00015
NM_005120.3(MED12):c.4179A>C (p.Ser1393=) rs376058351 0.00015
NM_001110556.2(FLNA):c.2725G>A (p.Val909Ile) rs199911951 0.00013
NM_001110556.2(FLNA):c.3522C>T (p.Thr1174=) rs373625856 0.00013
NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser) rs375205247 0.00013
NM_001110792.2(MECP2):c.789C>T (p.Pro263=) rs63582063 0.00013
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105 0.00012
NM_001110556.2(FLNA):c.1356C>T (p.Gly452=) rs782437864 0.00011
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00011
NM_203475.3(PORCN):c.453G>A (p.Ser151=) rs375894841 0.00008
NM_001110556.2(FLNA):c.1587G>A (p.Lys529=) rs782615607 0.00007
NM_005120.3(MED12):c.1167G>A (p.Lys389=) rs374324656 0.00007
NM_000719.7(CACNA1C):c.1524G>A (p.Arg508=) rs377431864 0.00006
NM_001330078.2(NRXN1):c.4248G>A (p.Pro1416=) rs151195816 0.00006
NM_000719.7(CACNA1C):c.5747A>G (p.Gln1916Arg) rs186867242 0.00005
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=) rs140332992 0.00004
NM_006950.3(SYN1):c.1321G>T (p.Ala441Ser) rs772106134 0.00004
NM_001110556.2(FLNA):c.1314C>T (p.Gly438=) rs372113435 0.00002
NM_001110556.2(FLNA):c.5275C>G (p.Pro1759Ala) rs1382076574 0.00002
NM_001110556.2(FLNA):c.5661C>T (p.Thr1887=) rs782253233 0.00002
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg) rs587783139 0.00002
NM_003179.3(SYP):c.398G>A (p.Arg133Gln) rs782047632 0.00002
NM_001110556.2(FLNA):c.5292C>T (p.Ala1764=) rs1027131950 0.00001
NM_001110792.2(MECP2):c.898G>A (p.Val300Met) rs782455664 0.00001
NM_001323289.2(CDKL5):c.939A>G (p.Arg313=) rs370986597 0.00001
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=) rs374896287 0.00001
NM_005634.3(SOX3):c.753G>C (p.Pro251=) rs557384424 0.00001
NM_000052.7(ATP7A):c.4267C>A (p.Arg1423=) rs149079962
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=) rs199538058
NM_001123385.2(BCOR):c.3305T>G (p.Val1102Gly) rs111622737
NM_001323289.2(CDKL5):c.480G>C (p.Leu160=) rs750878642
NM_001330078.2(NRXN1):c.4405C>A (p.Arg1469=) rs1331703447
NM_002294.3(LAMP2):c.576C>T (p.Asp192=) rs1569369724
NM_005120.3(MED12):c.6208CAG[6] (p.Gln2076del) rs757160341
NM_005120.3(MED12):c.6241CAG[5] (p.Gln2086del) rs786200971
NM_030665.4(RAI1):c.834GCA[9] (p.Gln288_Gln291del) rs371983878
NM_139058.3(ARX):c.441A>G (p.Ala147=) rs797045301

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