ClinVar Miner

List of variants in gene AMPD1 studied for complex neurodevelopmental disorder

Included ClinVar conditions (295):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000036.3(AMPD1):c.1399C>T (p.Arg467Cys) rs587779370 0.00006
NM_000036.3(AMPD1):c.-69C>G rs587779375 0.00003
NM_000036.3(AMPD1):c.-30G>A rs587779378 0.00001
NM_000036.3(AMPD1):c.509A>T (p.Asp170Val) rs572362619 0.00001
NM_000036.3(AMPD1):c.727G>A (p.Asp243Asn) rs587779379 0.00001
NM_000036.3(AMPD1):c.1350C>G (p.Cys450Trp) rs587779369
NM_000036.3(AMPD1):c.1470C>T (p.Thr490=) rs587779371
NM_000036.3(AMPD1):c.1615C>T (p.Pro539Ser) rs587779372
NM_000036.3(AMPD1):c.1778C>G (p.Ser593Cys) rs587779373
NM_000036.3(AMPD1):c.1943C>T (p.Thr648Ile) rs587779374
NM_000036.3(AMPD1):c.507T>G (p.Ile169Met) rs542684385
NM_000036.3(AMPD1):c.540C>T (p.Phe180=) rs587779376
NM_000036.3(AMPD1):c.603T>A (p.Pro201=) rs587779377

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