ClinVar Miner

List of variants reported as pathogenic for anauxetic dysplasia by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NR_003051.3(RMRP):n.71A>G rs199476103 0.00156
NR_003051.4(RMRP):n.264G>T rs727502774 0.00006
NR_003051.3(RMRP):n.-19_-3dup rs727502778
NR_003051.3(RMRP):n.-22_-3dup rs1554651411
NR_003051.3(RMRP):n.-7_1dup rs752934195
NR_003051.3(RMRP):n.147G>A rs753874439

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