ClinVar Miner

List of variants in gene AMPD1 studied for autism (disease)

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
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.1569C>T (p.Thr523=) rs587779371
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.639C>T (p.Phe213=) rs587779376
NM_000036.2(AMPD1):c.702T>A (p.Pro234=) rs587779377
NM_000036.2(AMPD1):c.70G>A (p.Ala24Thr) rs587779378
NM_000036.2(AMPD1):c.826G>A (p.Asp276Asn) rs587779379

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