ClinVar Miner

List of variants studied for hereditary epidermal appendage anomaly by Laboratorio de Biologia Molecular/Medicina Genomica - IFF/Fiocruz, Instituto Fernandes Figueira, Fundacao Oswaldo Cruz

Included ClinVar conditions (216):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NR_003051.4(RMRP):n.-20_-1dup rs1554651403 0.00001
NR_003051.4(RMRP):n.-21_-13dup rs1563908167 0.00001
NR_003051.4(RMRP):n.-18_-17insTCTGTGAAGCTGAGGAC
NR_003051.4(RMRP):n.-18_-2dup rs727502778
NR_003051.4(RMRP):n.-21_-2dup rs1554651411
NR_003051.4(RMRP):n.-23_-14dup rs1554651532
NR_003051.4(RMRP):n.-24_-3dup rs1554651423
NR_003051.4(RMRP):n.-5_+5dup
NR_003051.4(RMRP):n.-7_-6insGGGACTACTCTGTGAAGCTG rs1554651471
NR_003051.4(RMRP):n.246G>C

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