ClinVar Miner

List of variants reported as uncertain significance for Singleton-Merten syndrome 2 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_014314.4(RIGI):c.1863G>T (p.Glu621Asp)	rs145874548
NM_014314.4(RIGI):c.2368A>C (p.Ile790Leu)	rs771103623
NM_014314.4(RIGI):c.396_399del (p.Asn133fs)	rs760088776

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