ClinVar Miner

List of variants studied for language disorder

Included ClinVar conditions (10):
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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_007347.5(AP4E1):c.1967-91A>G rs2306335 0.79763
NM_007347.5(AP4E1):c.222+48_222+49insT rs3214932 0.57174
NM_007347.5(AP4E1):c.346+50G>C rs2663553 0.57162
NM_007347.5(AP4E1):c.1066+51T>C rs2291107 0.20641
NM_007347.5(AP4E1):c.150+33A>G rs76674534 0.16669
NM_007347.5(AP4E1):c.2905-8A>G rs56813592 0.01851
NM_007347.5(AP4E1):c.1085A>G (p.Tyr362Cys) rs58909326 0.01464
NM_007347.5(AP4E1):c.2429C>T (p.Thr810Ile) rs75130619 0.01213
NM_007347.5(AP4E1):c.542+11T>G rs58882998 0.00762
NM_007347.5(AP4E1):c.171G>A (p.Gln57=) rs28463775 0.00543
NM_007347.5(AP4E1):c.2755A>G (p.Met919Val) rs115188375 0.00503
NM_007347.5(AP4E1):c.1283A>G (p.Asn428Ser) rs116796602 0.00488
NM_007347.5(AP4E1):c.1177-9T>C rs145851652 0.00333
NM_007347.5(AP4E1):c.2346+10C>T rs112190952 0.00228
NM_016256.4(NAGPA):c.982C>T (p.Arg328Cys) rs139526942 0.00062
NM_007347.5(AP4E1):c.613C>A (p.His205Asn) rs148499164 0.00052
NM_016256.4(NAGPA):c.252C>G (p.His84Gln) rs755458782 0.00049
NM_007347.5(AP4E1):c.3079C>T (p.Leu1027=) rs187436884 0.00011
NM_007347.5(AP4E1):c.2813A>G (p.Asp938Gly) rs372620158 0.00006
NM_024795.4(TM4SF20):c.559A>G (p.Ile187Val) rs575973865 0.00006
NM_007347.5(AP4E1):c.2149C>T (p.Pro717Ser) rs150743968 0.00005
NM_001197104.2(KMT2A):c.2633G>A (p.Arg878Gln) rs879253756 0.00001
NM_007347.5(AP4E1):c.3117C>T (p.Asp1039=) rs752693324 0.00001
NM_024795.4(TM4SF20):c.271A>G (p.Ser91Gly) rs1422064104 0.00001
46;XY;t(12;14)(q15;q13)mat
GRCh37/hg19 2q36.3(chr2:227939002-227943108)
NM_001382637.1(OTUD7A):c.697C>T (p.Leu233Phe) rs1162953058
NM_007347.4(AP4E1):c.[1549G>A;2401G>A]
NM_007347.5(AP4E1):c.1316+44_1316+54del rs144809125
NM_007347.5(AP4E1):c.1675A>C (p.Thr559Pro) rs1176175925
NM_007347.5(AP4E1):c.2234_2235dup (p.Thr746Ter) rs1555462184
NM_007347.5(AP4E1):c.3096-57dup rs3840015
NM_007347.5(AP4E1):c.382C>T (p.His128Tyr) rs2063738778
NM_007347.5(AP4E1):c.617T>C (p.Ile206Thr) rs1264635526
NM_024795.4(TM4SF20):c.510G>A (p.Trp170Ter)
NM_173081.5(ARMC3):c.916+1G>A rs767509621
NM_173354.5(SIK1):c.1153C>T (p.Arg385Ter) rs1256783641
NM_183357.3(ADCY5):c.649del (p.Arg217fs) rs1057518757
TM4SF20, 4-KB DEL

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