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

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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.1015G>A (p.Val339Met)	rs150591260	0.00057
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln)	rs119103219	0.00014
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe)	rs757052602	0.00011
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val)	rs119103224	0.00004
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr)	rs773774134	0.00002
NM_022132.5(MCCC2):c.1412_1413del (p.Ser471fs)	rs780304038	0.00001
NM_022132.5(MCCC2):c.142C>T (p.Gln48Ter)	rs1184301452	0.00001
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter)	rs727504010	0.00001
NM_022132.4(MCCC2):c.1367_1368inv (p.Ala456Val)
NM_022132.5(MCCC2):c.1081C>T (p.Arg361Ter)	rs763293192
NM_022132.5(MCCC2):c.214C>T (p.Arg72Ter)	rs147903984
NM_022132.5(MCCC2):c.380C>G (p.Ser127Ter)	rs398124372
NM_022132.5(MCCC2):c.449_450del (p.Val150fs)	rs1554134061
NM_022132.5(MCCC2):c.456dup (p.Gln153fs)	rs1580280976
NM_022132.5(MCCC2):c.517dup (p.Ser173fs)	rs587776533
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter)	rs780011606
NM_022132.5(MCCC2):c.803G>C (p.Arg268Thr)	rs119103223

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