ClinVar Miner

List of variants studied for immunodeficiency 80 with or without congenital cardiomyopathy by OMIM

Included ClinVar conditions (1):

Immunodeficiency 80 with or without congenital cardiomyopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_018518.5(MCM10):c.1276C>T (p.Arg426Cys)	rs746874909	0.00001
NM_018518.5(MCM10):c.764+5G>A	rs781204418	0.00001
NM_018518.5(MCM10):c.1744C>T (p.Arg582Ter)	rs2131579842
NM_018518.5(MCM10):c.236del (p.Gly79fs)	rs2131558198

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