ClinVar Miner

List of variants studied for Singleton-Merten syndrome 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_014314.4(RIGI):c.734A>G (p.Asn245Ser)	rs141808660	0.00693
NM_014314.4(RIGI):c.1737C>T (p.Phe579=)	rs116612738	0.00517
NM_014314.4(RIGI):c.1481-21dup	rs71504272
NM_014314.4(RIGI):c.816dup (p.Val273fs)	rs781124785

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