ClinVar Miner

List of variants in gene RMRP reported as pathogenic for anauxetic dysplasia 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NR_003051.3(RMRP):n.219A>G
NR_003051.3(RMRP):n.64C>T rs786204684
NR_003051.3(RMRP):n.71A>G rs199476103
NR_003051.3(RMRP):n.91_92delAGinsGC rs387906533
RMRP, 10-BP DEL, NT254
RMRP, 14-BP INS, NT111
RMRP, 14G-A
RMRP, 254C-G

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