List of variants in gene MECR reported by CeGaT Center for Human Genetics Tuebingen

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_016011.5(MECR):c.830C>T (p.Ala277Val)	rs148978800	0.00429
NM_016011.5(MECR):c.773G>T (p.Arg258Leu)	rs34835902	0.00418
NM_016011.5(MECR):c.680G>A (p.Arg227Lys)	rs11544658	0.00145
NM_016011.5(MECR):c.670C>T (p.Leu224=)	rs138091159	0.00124
NM_016011.5(MECR):c.341C>T (p.Ala114Val)	rs138259600	0.00026
NM_016011.5(MECR):c.586G>A (p.Val196Met)
NM_016011.5(MECR):c.855T>G (p.Tyr285Ter)	rs1057519286
NM_016011.5(MECR):c.891+36G>A

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