List of variants reported as uncertain significance for Nizon-Isidor syndrome by New York Genome Center

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001393769.1(MED12L):c.2147G>T (p.Cys716Phe)	rs772438632	0.00004
NM_001393769.1(MED12L):c.5807G>A (p.Arg1936Gln)	rs745754346	0.00004
NM_001393769.1(MED12L):c.701A>G (p.Glu234Gly)	rs761030969	0.00001
NM_001393769.1(MED12L):c.2102G>A (p.Cys701Tyr)	rs777877551
NM_001393769.1(MED12L):c.2251-4T>A	rs772875779
NM_001393769.1(MED12L):c.5597C>T (p.Ser1866Phe)	rs367692964
NM_001393769.1(MED12L):c.6322C>T (p.Pro2108Ser)	rs1279239457

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