ClinVar Miner

List of variants reported as pathogenic for Rapadilino syndrome by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004260.4(RECQL4):c.1390+2del	rs386833843	0.00043
NM_004260.4(RECQL4):c.3271C>T (p.Gln1091Ter)	rs137853230
NM_004260.4(RECQL4):c.806G>A (p.Trp269Ter)	rs137853231

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