ClinVar Miner

List of variants reported as pathogenic for autism spectrum disorder - epilepsy - arthrogryposis syndrome

Included ClinVar conditions (1):
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_012243.3(SLC35A3):c.886A>G (p.Ser296Gly) rs141952252 0.00006
NM_012243.3(SLC35A3):c.680dup (p.Asp227fs) rs866803539 0.00004
NM_012243.3(SLC35A3):c.211C>T (p.Arg71Ter) rs778502240 0.00001
NM_012243.3(SLC35A3):c.73C>T (p.Arg25Cys) rs753997682 0.00001
NM_012243.3(SLC35A3):c.842C>A (p.Ser281Ter) rs1660258358 0.00001
NC_000001.10:g.(?_100316589)_(100483381_?)del
NC_000001.10:g.(?_100316589)_(100488042_?)del
NC_000001.10:g.(?_100436083)_(100477099_?)del
NC_000001.10:g.(?_100436083)_(100480986_?)del
NC_000001.10:g.(?_100459083)_(100459307_?)del
NC_000001.10:g.(?_100472580)_(100477099_?)del
NC_000001.11:g.(?_100007014)_(100011553_?)del
NM_012243.3(SLC35A3):c.-18-1G>T rs2101132521
NM_012243.3(SLC35A3):c.205del (p.Ala68_Leu69insTer)
NM_012243.3(SLC35A3):c.21C>G (p.Tyr7Ter) rs775151826
NM_012243.3(SLC35A3):c.234_235insTTTTTTTTNNNNNNNNNNTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCATGATGAAATTCTT (p.Asn79fs) rs2101195764
NM_012243.3(SLC35A3):c.287_288del (p.Leu96fs)
NM_012243.3(SLC35A3):c.340C>T (p.Gln114Ter)
NM_012243.3(SLC35A3):c.38del (p.Leu13fs) rs2101133098
NM_012243.3(SLC35A3):c.423G>A (p.Trp141Ter)
NM_012243.3(SLC35A3):c.45del (p.Gln16fs)
NM_012243.3(SLC35A3):c.481C>T (p.Gln161Ter) rs1553203137
NM_012243.3(SLC35A3):c.514C>T (p.Gln172Ter) rs398122524
NM_012243.3(SLC35A3):c.520del (p.Phe173_Val174insTer) rs1659624849
NM_012243.3(SLC35A3):c.588_589del (p.Leu197fs)
NM_012243.3(SLC35A3):c.594_598del (p.Lys198fs) rs1332257684
NM_012243.3(SLC35A3):c.595G>T (p.Glu199Ter) rs2101370069
NM_012243.3(SLC35A3):c.605_606insGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCACCCAGACAACAGAGCAAGACTCCGTCTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAAACAAAACA (p.Ser203fs)
NM_012243.3(SLC35A3):c.609_610del (p.Trp205fs)
NM_012243.3(SLC35A3):c.615G>A (p.Trp205Ter)
NM_012243.3(SLC35A3):c.699del (p.Asn234fs)
NM_012243.3(SLC35A3):c.711dup (p.Gln238fs) rs1316448163
NM_012243.3(SLC35A3):c.724C>T (p.Arg242Ter) rs1660025629
NM_012243.3(SLC35A3):c.735G>A (p.Trp245Ter)
NM_012243.3(SLC35A3):c.74G>T (p.Arg25Leu) rs903783945
NM_012243.3(SLC35A3):c.751C>T (p.Gln251Ter) rs1660027548
NM_012243.3(SLC35A3):c.754_755del (p.Ala252fs)
NM_012243.3(SLC35A3):c.762_763dup (p.Gly255fs) rs1570625903
NM_012243.3(SLC35A3):c.783del (p.Ile262fs)
NM_012243.3(SLC35A3):c.811G>T (p.Gly271Ter)
NM_012243.3(SLC35A3):c.899_900delinsA (p.Leu300fs) rs2101501082

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