ClinVar Miner

List of variants reported as uncertain significance for Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_016213.5(TRIP4):c.1465C>T (p.Arg489Cys)	rs764341782	0.00002
NM_016213.5(TRIP4):c.1065del (p.Ile356fs)	rs1891833492
NM_016213.5(TRIP4):c.1678+1_1678+2insC	rs2140313200

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