ClinVar Miner

List of variants reported as uncertain significance for Nizon-Isidor syndrome by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001393769.1(MED12L):c.1626G>A (p.Glu542=)	rs2530931965
NM_001393769.1(MED12L):c.2242A>G (p.Ile748Val)
NM_001393769.1(MED12L):c.3113A>G (p.Asn1038Ser)

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