ClinVar Miner

List of variants studied for autism spectrum disorder by Baylor Genetics

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_001040142.2(SCN2A):c.2229_2230del (p.Lys743fs) rs1057518658
NM_020719.3(PRR12):c.1918G>T (p.Glu640Ter) rs1555740650
NM_020719.3(PRR12):c.4502_4505del (p.Leu1501fs) rs1555741826
NM_020719.3(PRR12):c.903_909dup (p.Pro304fs) rs1555740394
NM_033656.4(BRWD1):c.2352G>A (p.Ser784=) rs918131106
NM_173569.4(UBN2):c.2024+1G>A rs1585016242

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