List of variants studied for Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome by Genome-Nilou Lab

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_016030.6(TRAPPC12):c.681T>C (p.Phe227=)	rs10865541	0.62092
NM_016030.6(TRAPPC12):c.2181C>T (p.Phe727=)	rs6767	0.44208
NM_016030.6(TRAPPC12):c.1773G>C (p.Leu591=)	rs4971514	0.41325
NM_016030.6(TRAPPC12):c.901A>G (p.Ser301Gly)	rs11686212	0.39756
NM_016030.6(TRAPPC12):c.432C>T (p.Ala144=)	rs11127423	0.22847

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