ClinVar Miner

List of variants in gene MYBPC1 reported as pathogenic for arthrogryposis, distal, type 1B

Included ClinVar conditions (2):

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_002465.4(MYBPC1):c.706T>C (p.Trp236Arg)	rs387906657	0.00001
NM_002465.4(MYBPC1):c.2566T>C (p.Tyr856His)	rs387906658

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