ClinVar Miner

List of variants reported as likely pathogenic for Autism spectrum disorder

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Total variants: 34
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HGVS dbSNP
10q21.3duplication
16q24.1duplication
1q41 duplication
20p12.1duplication
2q14.3duplication
2q24.3deletion
4q35.2deletion
5p15.31duplication
6p22.3duplication
6q23.3deletion
7q31.1duplication
8q24.13duplication
8q24.3duplication
NC_000002.10:g.156460167_157638982del1178816
NC_000002.12:g.154507239_157810705del3303467
NC_000015.8:g.21238307_32518050dup
NC_000015.8:g.23298670_24646413dup
NC_000016.10:g.(?_29390980)_(30215610_?)dup
NC_000016.10:g.(?_29506378)_(30180574_?)del
NC_000016.10:g.(?_29506378)_(30180574_?)dup
NC_000016.10:g.(?_29602174)_(30178709_?)dup
NC_000016.10:g.(?_29685652)_(30180586_?)dup
NM_000548.4(TSC2):c.1081C>G (p.Leu361Val) rs796053483
NM_001068.3(TOP2B):c.172C>T (p.His58Tyr) rs886039770
NM_001111125.2(IQSEC2):c.1229delC (p.Pro410Leufs)
NM_001128147.2(NF1):c.1742dup (p.Leu581Phefs)
NM_001304717.2(PTEN):c.404dup (p.Gly136Argfs)
NM_001304717.2(PTEN):c.460dup (p.Arg154Profs)
NM_002972.3(SBF1):c.1180G>T (p.Glu394Ter)
NM_003159.2(CDKL5):c.2854C>T (p.Arg952Ter) rs202153551
NM_004006.2(DMD):c.5485C>G (p.Gln1829Glu) rs754765424
NM_014141.5(CNTNAP2):c.1778-1G>C
NM_021008.3(DEAF1):c.664+2T>G
NM_152722.4(HEPACAM):c.803+1G>A rs375712202

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