ClinVar Miner

List of variants in gene MCCC2 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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_022132.5(MCCC2):c.653C>T (p.Ala218Val)	rs760420191	0.00003
NM_022132.5(MCCC2):c.1300G>C (p.Val434Leu)	rs758506791	0.00001

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