List of variants in gene MECR studied for Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_016011.5(MECR):c.597A>G (p.Ala199=)	rs1062924	0.85930
NM_016011.5(MECR):c.286T>C (p.Phe96Leu)	rs1128400	0.83145
NM_016011.5(MECR):c.176+19G>A	rs2640466	0.80531
NM_016011.5(MECR):c.965-11A>G	rs374970921	0.00021
NM_016011.4(MECR):c.772C>T (p.Arg258Trp)	rs145192716	0.00006
NM_016011.5(MECR):c.830+2dup	rs756421370	0.00006
NM_016011.5(MECR):c.695G>A (p.Gly232Glu)	rs762913101	0.00002
NM_016011.5(MECR):c.854A>G (p.Tyr285Cys)	rs759218713	0.00001
NC_000001.11:g.29203234del	rs1574315873
NM_016011.4(MECR):c.-39G>C	rs749435497
NM_016011.5(MECR):c.161C>T (p.Pro54Leu)	rs1683215661
NM_016011.5(MECR):c.247_250del (p.Asn83fs)	rs1057519287
NM_016011.5(MECR):c.406G>A (p.Gly136Arg)
NM_016011.5(MECR):c.583G>A (p.Gly195Arg)
NM_016011.5(MECR):c.855T>G (p.Tyr285Ter)	rs1057519286
NM_016011.5(MECR):c.910G>T (p.Asp304Tyr)	rs761771473

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