ClinVar Miner

List of variants reported as likely pathogenic for autism (disease)

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000693.4(ALDH1A3):c.1514T>C (p.Ile505Thr) rs797046134
NM_001042537.1(SLC9A6):c.1728-19_1728-3del rs1569525894
NM_001111125.3(IQSEC2):c.2854C>T (p.Gln952Ter) rs1057518993
NM_003593.2(FOXN1):c.146C>T (p.Ser49Leu) rs797046135
NM_014191.4(SCN8A):c.4892T>C (p.Ile1631Thr)
NM_032682.5(FOXP1):c.1348+2T>C rs1057518999
NM_172171.2(CAMK2G):c.875G>C (p.Arg292Pro) rs397514627
NM_175929.2(FGF14):c.501dup (p.Arg168fs) rs1566823361
Single allele

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