ClinVar Miner

List of variants studied for triple-A syndrome by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549 0.00003
NM_013335.4(GMPPA):c.592T>C (p.Phe198Leu) rs773715630
NM_015665.6(AAAS):c.1264_1273del (p.Gln422fs) rs2121082201
NM_015665.6(AAAS):c.649A>G (p.Ile217Val)

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