ClinVar Miner

List of variants reported as uncertain significance for autism spectrum disorder by State Key Lab of Medical Genetics, Central South University

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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NM_000036.2(AMPD1):c.1449C>G (p.Cys483Trp) rs587779369
NM_000036.2(AMPD1):c.1498C>T (p.Arg500Cys) rs587779370
NM_000036.2(AMPD1):c.1714C>T (p.Pro572Ser) rs587779372
NM_000036.2(AMPD1):c.1877C>G (p.Ser626Cys) rs587779373
NM_000036.2(AMPD1):c.2042C>T (p.Thr681Ile) rs587779374
NM_000036.2(AMPD1):c.31C>G (p.Gln11Glu) rs587779375
NM_000036.2(AMPD1):c.606T>G (p.Ile202Met) rs542684385
NM_000036.2(AMPD1):c.608A>T (p.Asp203Val) rs572362619
NM_000036.2(AMPD1):c.70G>A (p.Ala24Thr) rs587779378
NM_000036.2(AMPD1):c.826G>A (p.Asp276Asn) rs587779379

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