ClinVar Miner

List of variants studied for COACH syndrome 3 by OMIM

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)	rs145665129	0.00001
NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro)	rs267607020

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