List of variants in gene MCCC1 reported 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
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=)	rs34749281	0.01204
NM_020166.5(MCCC1):c.726T>C (p.Asp242=)	rs36206712	0.00445
NM_020166.5(MCCC1):c.294C>T (p.Ile98=)	rs368288499	0.00009
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser)	rs119103213	0.00008
GRCh37/hg19 3q27.1(chr3:182759355-182759538)x1
NM_020166.5(MCCC1):c.1193_1194del (p.Val398fs)	rs796051985
NM_020166.5(MCCC1):c.130_131delinsTT (p.Ala44Phe)	rs1553868919
NM_020166.5(MCCC1):c.1527C>A (p.Cys509Ter)	rs1713695107
NM_020166.5(MCCC1):c.231G>A (p.Ala77=)	rs144230304
NM_020166.5(MCCC1):c.558del (p.Gln186fs)	rs1212517901
NM_020166.5(MCCC1):c.874-6del	rs755494348

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