ClinVar Miner

List of variants studied for autism spectrum disorder - epilepsy - arthrogryposis syndrome by Natera, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_012243.3(SLC35A3):c.531G>C (p.Met177Ile) rs151009402 0.00095
NM_012243.3(SLC35A3):c.599C>G (p.Thr200Arg) rs759966591 0.00019
NM_012243.3(SLC35A3):c.483G>A (p.Gln161=) rs370315911 0.00010
NM_012243.3(SLC35A3):c.886A>G (p.Ser296Gly) rs141952252 0.00006
NM_012243.3(SLC35A3):c.375A>T (p.Ala125=) rs773812783 0.00004
NM_012243.3(SLC35A3):c.748C>T (p.Leu250Phe) rs137902416 0.00004
NM_012243.3(SLC35A3):c.278T>C (p.Ile93Thr) rs775651587 0.00003
NM_012243.3(SLC35A3):c.74G>A (p.Arg25His) rs903783945 0.00002
NM_012243.3(SLC35A3):c.107G>A (p.Arg36His) rs747574982 0.00001
NM_012243.3(SLC35A3):c.187+5G>A rs1327580386 0.00001
NM_012243.3(SLC35A3):c.378A>G (p.Leu126=) rs761280692 0.00001
NM_012243.3(SLC35A3):c.606A>G (p.Gln202=) rs370227291 0.00001
NM_012243.3(SLC35A3):c.754-3C>T rs752607628 0.00001
NM_012243.3(SLC35A3):c.103C>A (p.Pro35Thr) rs1199734991
NM_012243.3(SLC35A3):c.328G>A (p.Ala110Thr) rs1658616708
NM_012243.3(SLC35A3):c.516A>G (p.Gln172=) rs1282648211
NM_012243.3(SLC35A3):c.725G>A (p.Arg242Gln) rs760633616
NM_012243.3(SLC35A3):c.887G>A (p.Ser296Asn) rs1310530690
NM_012243.3(SLC35A3):c.888-10T>A rs750539187
NM_012243.3(SLC35A3):c.959G>A (p.Gly320Glu) rs1553205151

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