List of variants in gene MME reported as uncertain significance 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: 20

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HGVS	dbSNP	gnomAD frequency
NM_007289.4(MME):c.1040A>G (p.Tyr347Cys)	rs138218277	0.00064
NM_007289.4(MME):c.2067C>A (p.Asn689Lys)	rs146536523	0.00009
NM_007289.4(MME):c.1580G>A (p.Arg527Gln)	rs202008298	0.00003
NM_007289.4(MME):c.160+8A>G	rs201140768	0.00003
NM_007289.4(MME):c.1672G>A (p.Gly558Ser)	rs200645368	0.00002
NM_007289.4(MME):c.1706A>C (p.Gln569Pro)	rs1326179984	0.00001
NM_007289.4(MME):c.1914+6T>A	rs763757710	0.00001
NM_007289.4(MME):c.280C>T (p.Arg94Cys)	rs184108383	0.00001
NM_007289.4(MME):c.358G>A (p.Asp120Asn)	rs1440811096	0.00001
NM_007289.4(MME):c.957+3A>G	rs201526630	0.00001
NM_007289.4(MME):c.1094+5G>A	rs1048105813
NM_007289.4(MME):c.1189-4G>A	rs182602615
NM_007289.4(MME):c.1319T>A (p.Val440Asp)
NM_007289.4(MME):c.1745T>C (p.Ile582Thr)	rs1723146996
NM_007289.4(MME):c.1921G>A (p.Gly641Arg)	rs1559963546
NM_007289.4(MME):c.1945A>C (p.Ile649Leu)	rs1576669111
NM_007289.4(MME):c.1946T>G (p.Ile649Ser)	rs184666602
NM_007289.4(MME):c.2059T>A (p.Phe687Ile)	rs1712044132
NM_007289.4(MME):c.680C>T (p.Pro227Leu)	rs2108261439
NM_007289.4(MME):c.713A>C (p.Tyr238Ser)	rs202126163

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