List of variants in gene MEF2C reported as likely pathogenic 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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 5q14.3(chr5:88119552-88119605)x1
NM_002397.5(MEF2C):c.13_14del (p.Lys5fs)	rs1554150590
NM_002397.5(MEF2C):c.14del (p.Lys5fs)	rs1554150590
NM_002397.5(MEF2C):c.258+1G>T	rs1064797310

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