ClinVar Miner

List of variants reported as likely pathogenic for Autism

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Total variants: 56
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 16p13.11(chr16:14927857-16537664)
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18770833)
GRCh37/hg19 22q11.22(chr22:22320654-22566334)x1
GRCh37/hg19 4p12-11(chr4:45868775-48273513)x3
NC_000001.11:g.(?_103175204)_(111410059_?)del
NC_000001.11:g.(?_204033173)_(208209798_?)del
NC_000001.11:g.(?_231740970)_(231949671_?)del
NC_000002.12:g.(?_235927172)_(236034017_?)del
NC_000003.12:g.(?_1133359)_(1192637_?)del
NC_000003.12:g.(?_1185337)_(1255844_?)del
NC_000003.12:g.(?_1204527)_(1310468_?)del
NC_000003.12:g.(?_1247669)_(1285156_?)del
NC_000003.12:g.(?_60501297)_(60591815_?)del
NC_000004.12:g.(?_148159332)_(148473475_?)del
NC_000006.12:g.(?_162035873)_(162195188_?)del
NC_000006.12:g.(?_162036131)_(162191715_?)del
NC_000006.12:g.(?_162162293)_(162311859_?)del
NC_000006.12:g.(?_162184117)_(162211182_?)del
NC_000006.12:g.(?_162440726)_(162603304_?)del
NC_000007.14:g.(?_111777402)_(111865491_?)del
NC_000007.14:g.(?_146655407)_(146796363_?)del
NC_000007.14:g.(?_152454659)_(158705768_?)del
NC_000008.11:g.(?_3914469)_(4157437_?)del
NC_000008.11:g.(?_4410048)_(4458635_?)del
NC_000008.11:g.(?_9998540)_(10117911_?)del
NC_000009.12:g.(?_116611967)_(116683530_?)del
NC_000010.11:g.(?_53976705)_(54036062_?)del
NC_000011.10:g.(?_96535656)_(99184810_?)del
NC_000012.12:g.(?_28125337)_(28231096_?)del
NC_000013.11:g.(?_35011654)_(35113567_?)del
NC_000013.11:g.(?_35060502)_(35507109_?)del
NC_000016.10:g.(?_6759006)_(6789572_?)del
NC_000017.11:g.(?_14183541)_(15573247_?)del
NC_000018.10:g.(?_10000)_(1543845_?)del
NC_000019.10:g.(?_17607118)_(17624457_?)del
NC_000020.11:g.(?_14490624)_(14573076_?)del
NC_000020.11:g.(?_15307783)_(15453889_?)del
NC_000020.11:g.(?_25564868)_(25611357_?)del
NC_000020.11:g.(?_42303583)_(42488707_?)del
NC_000020.11:g.(?_42461895)_(42648116_?)del
NC_000020.11:g.(?_42526267)_(42726111_?)del
NC_000020.11:g.(?_42579501)_(42691367_?)del
NC_000021.9:g.(?_38981673)_(41568791_?)del
NC_000022.11:g.(?_21959229)_(22218520_?)del
NC_000023.11:g.(?_31660226)_(31820401_?)del
NC_000023.11:g.(?_32345828)_(32377888_?)del
NC_000023.11:g.(?_44209146)_(46109507_?)del
NC_000023.11:g.(?_4692064)_(6048196_?)del
NM_000193.4(SHH):c.206A>T (p.Asn69Ile) rs777486607
NM_000693.4(ALDH1A3):c.1514T>C (p.Ile505Thr) rs797046134
NM_001323289.2(CDKL5):c.2626A>G (p.Ile876Val)
NM_001349338.3(FOXP1):c.1348+2T>C rs1057518999
NM_001369369.1(FOXN1):c.146C>T (p.Ser49Leu) rs797046135
NM_014727.3(KMT2B):c.121G>T (p.Glu41Ter) rs1969025340
NM_015021.3(ZNF292):c.8026G>A (p.Asp2676Asn)
Single allele

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