ClinVar Miner

List of variants studied for Acrodysostosis 1 with or without hormone resistance by Genome-Nilou Lab

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002734.5(PRKAR1A):c.770-24G>A rs2302230 0.73571
NM_002734.5(PRKAR1A):c.892-34G>T rs2302231 0.71288
NM_002734.5(PRKAR1A):c.349-5dup rs3841514
NM_002734.5(PRKAR1A):c.998G>A (p.Arg333His) rs2143389718

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