List of variants in gene EMD reported by Fulgent Genetics, Fulgent Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000117.3(EMD):c.399+18C>T	rs182540760	0.00199
NM_000117.3(EMD):c.396C>T (p.His132=)	rs145985318	0.00077
NM_000117.3(EMD):c.598T>C (p.Trp200Arg)	rs374981936	0.00011
NM_000117.3(EMD):c.173C>T (p.Ser58Phe)	rs781797234	0.00003
NM_000117.3(EMD):c.399+10C>T	rs375654959	0.00003
NM_000117.3(EMD):c.449+5G>A	rs370840449	0.00003
NM_000117.3(EMD):c.241G>A (p.Asp81Asn)	rs141138209	0.00002
NM_000117.3(EMD):c.400-6C>T	rs782396776	0.00001
NM_000117.3(EMD):c.593C>T (p.Ser198Phe)	rs1569552105	0.00001
NM_000117.3(EMD):c.620G>A (p.Arg207Gln)	rs782352489	0.00001
NM_000117.3(EMD):c.631C>T (p.Arg211Cys)	rs782193940	0.00001
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del)	rs782507902
NM_000117.3(EMD):c.449+4C>T	rs886044810
NM_000117.3(EMD):c.460A>G (p.Met154Val)	rs782806462
NM_000117.3(EMD):c.500A>G (p.Tyr167Cys)	rs2067884177

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