ClinVar Miner

List of variants reported as uncertain significance for History of neurodevelopmental disorder by Ambry Genetics

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_006306.4(SMC1A):c.*14C>T rs112727682 0.00436
NM_001190417.2(ZNF674):c.692A>G (p.Lys231Arg) rs201621696 0.00400
NM_000266.4(NDP):c.*14G>A rs73475744 0.00365
NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser) rs145110602 0.00343
NM_020717.5(SHROOM4):c.509A>G (p.Tyr170Cys) rs142052951 0.00258
NM_001363.5(DKC1):c.1456G>A (p.Gly486Arg) rs150319104 0.00192
NM_001324144.2(ZNF41):c.2215A>T (p.Ile739Leu) rs145129774 0.00174
NM_001379110.1(SLC9A6):c.*8A>T rs200171451 0.00157
NM_004615.4(TSPAN7):c.515C>A (p.Pro172His) rs104894951 0.00126
NM_003179.3(SYP):c.877G>A (p.Gly293Ser) rs139475570 0.00122
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373 0.00109
NM_007325.5(GRIA3):c.397G>A (p.Ala133Thr) rs151086692 0.00081
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446 0.00074
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421 0.00066
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr) rs35698242 0.00063
NM_001324144.2(ZNF41):c.2114G>A (p.Arg705His) rs144904486 0.00050
NM_001244008.2(KIF1A):c.4781C>T (p.Ser1594Leu) rs201825284 0.00048
NM_001110556.2(FLNA):c.5313+4C>T rs377330443 0.00028
NM_001244008.2(KIF1A):c.5155G>A (p.Val1719Met) rs200511467 0.00021
NM_014141.6(CNTNAP2):c.1480G>A (p.Glu494Lys) rs149032771 0.00017
NM_004595.5(SMS):c.505+3A>G rs751807035 0.00015
NM_001008537.3(NEXMIF):c.2951A>G (p.Asn984Ser) rs375623451 0.00013
NM_001244008.2(KIF1A):c.1663G>A (p.Asp555Asn) rs375972461 0.00013
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu) rs146251034 0.00013
NM_001110556.2(FLNA):c.3106C>T (p.Arg1036Cys) rs781844419 0.00007
NM_000194.3(HPRT1):c.325C>A (p.Gln109Lys) rs137852489 0.00006
NM_001244008.2(KIF1A):c.4955G>A (p.Arg1652Gln) rs376658420 0.00006
NM_001184880.2(PCDH19):c.172G>T (p.Ala58Ser) rs763745318 0.00005
NM_001244008.2(KIF1A):c.5131G>A (p.Asp1711Asn) rs199574770 0.00005
NM_181332.3(NLGN4X):c.1360G>A (p.Val454Met) rs199525017 0.00005
NM_001244008.2(KIF1A):c.3487T>A (p.Ser1163Thr) rs527346259 0.00004
NM_001278116.2(L1CAM):c.338G>A (p.Arg113His) rs781908326 0.00004
NM_006517.5(SLC16A2):c.1117G>A (p.Val373Met) rs201039304 0.00004
NM_000719.7(CACNA1C):c.6239A>G (p.Asn2080Ser) rs886049209 0.00003
NM_001244008.2(KIF1A):c.3617G>A (p.Arg1206Gln) rs369849214 0.00003
NM_000381.4(MID1):c.250G>A (p.Asp84Asn) rs374851071 0.00002
NM_001244008.2(KIF1A):c.363+4C>T rs770137926 0.00002
NM_001282531.3(ADNP):c.344A>G (p.Asn115Ser) rs140023121 0.00002
NM_001291867.2(NHS):c.1174C>T (p.Arg392Trp) rs746433521 0.00002
NM_003611.3(OFD1):c.634C>T (p.Arg212Trp) rs776834508 0.00002
NM_000719.7(CACNA1C):c.3949G>A (p.Ala1317Thr) rs749588699 0.00001
NM_001184880.2(PCDH19):c.2558T>C (p.Phe853Ser) rs894617575 0.00001
NM_001330078.2(NRXN1):c.3919G>A (p.Val1307Ile) rs200044811 0.00001
NM_004484.4(GPC3):c.1277A>G (p.Gln426Arg) rs749874149 0.00001
NM_000202.8(IDS):c.542A>G (p.Asn181Ser) rs1569560492
NM_000489.6(ATRX):c.5311G>C (p.Gly1771Arg) rs1569531574
NM_000489.6(ATRX):c.5686A>G (p.Lys1896Glu) rs1569528925
NM_001032382.2(PQBP1):c.784A>G (p.Lys262Glu) rs1569510706
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
NM_001110792.2(MECP2):c.1193_1198del (p.Leu398_Pro399del) rs1569548334
NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys) rs267608388
NM_001110792.2(MECP2):c.785G>A (p.Arg262His) rs61750227
NM_004463.3(FGD1):c.1556G>A (p.Arg519His) rs398124157
NM_004463.3(FGD1):c.415C>T (p.Pro139Ser) rs1569541278
NM_005120.3(MED12):c.3979C>A (p.Pro1327Thr) rs1569481764
NM_005120.3(MED12):c.6208CAG[9] (p.Gln2075_Gln2076dup) rs757160341
NM_005120.3(MED12):c.6288GCA[5] (p.Gln2114_Gln2115del) rs766775649
NM_006306.4(SMC1A):c.413G>A (p.Gly138Asp) rs1569359134
NM_006766.5(KAT6A):c.3353-4A>G rs762302738
NM_006766.5(KAT6A):c.4968_4982dup (p.Gln1657_Pro1661dup) rs750049486
NM_012280.4(FTSJ1):c.205G>T (p.Gly69Cys) rs782012239
NM_139058.3(ARX):c.1261C>A (p.Pro421Thr) rs1417254985
NM_153252.5(BRWD3):c.1505G>A (p.Arg502Gln) rs1569261916

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