ClinVar Miner

List of variants studied for microvillus inclusion disease by 3billion, Medical Genetics

Included ClinVar conditions (2):

Congenital microvillous atrophy
Congenital microvillous atrophy; Cholestasis, progressive familial intrahepatic, 10

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001080467.3(MYO5B):c.4240G>A (p.Glu1414Lys)	rs76213287	0.00039
NM_001080467.3(MYO5B):c.-93C>T	rs1007521035
NM_001080467.3(MYO5B):c.284_285del (p.Glu95fs)	rs2144390075

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