List of variants in gene MCCC2 reported as likely pathogenic for not provided

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly)	rs35068278	0.00082
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)	rs150591260	0.00057
NM_022132.5(MCCC2):c.1208A>G (p.Asn403Ser)	rs142887940	0.00016
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg)	rs148773718	0.00015
NM_022132.5(MCCC2):c.384-20A>G	rs770917710	0.00013
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe)	rs757052602	0.00011
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala)	rs277995	0.00005
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val)	rs119103224	0.00004
NM_022132.5(MCCC2):c.653C>T (p.Ala218Val)	rs760420191	0.00003
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp)	rs141030969	0.00002
NM_022132.5(MCCC2):c.1300G>C (p.Val434Leu)	rs758506791	0.00001
NM_022132.5(MCCC2):c.281+5G>A	rs944539388	0.00001
NM_022132.5(MCCC2):c.302C>A (p.Ser101Tyr)	rs748028684
NM_022132.5(MCCC2):c.440C>T (p.Pro147Leu)	rs1474201425
NM_022132.5(MCCC2):c.557_560delinsTTGTCGAGGTAAGTGT (p.Pro186_Asp187delinsLeuValGluValSerVal)	rs797044772
NM_022132.5(MCCC2):c.632T>G (p.Val211Gly)
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr)	rs886043524

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