ClinVar Miner

List of variants studied for triple-A syndrome by Genome-Nilou Lab

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_015665.6(AAAS):c.1088-59A>G rs4759287 0.96514
NM_013335.4(GMPPA):c.1162+37T>A rs10932808 0.95585
NM_015665.6(AAAS):c.251+59A>C rs4759232 0.94301
NM_015665.6(AAAS):c.689+71C>G rs7953255 0.93983
NM_015665.6(AAAS):c.252-142C>A rs7960963 0.93441
NM_015665.6(AAAS):c.124-33A>C rs7298879 0.92298
NM_015665.6(AAAS):c.124-20T>C rs4759231 0.92286
NM_015665.6(AAAS):c.855C>T (p.Phe285=) rs1546808 0.91562
NM_013335.4(GMPPA):c.1053C>G (p.Ala351=) rs1046474 0.11761

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