ClinVar Miner

List of variants studied for amino acid metabolism disease by Division of Biology and Genetics, University of Brescia

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006907.4(PYCR1):c.728A>G (p.His243Arg) rs2041098364 0.00001
NM_006907.4(PYCR1):c.67+2T>A rs2041207320
NM_012463.4(ATP6V0A2):c.1002del (p.Leu335fs) rs1956563926
NM_012463.4(ATP6V0A2):c.535del (p.Gly178_Leu179insTer) rs1956462432

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