ClinVar Miner

List of variants studied for cartilage-hair hypoplasia by Undiagnosed Diseases Network, NIH

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NR_003051.4(RMRP):n.72A>G rs199476103 0.00156
NR_003051.4(RMRP):n.17C>T rs772664375 0.00002

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