ClinVar Miner

List of variants in gene TCAP reported as likely pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2G; Hypertrophic cardiomyopathy 25

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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_003673.4(TCAP):c.157C>T (p.Gln53Ter)	rs104894655	0.00001
NM_003673.4(TCAP):c.66G>A (p.Trp22Ter)	rs141019458	0.00001

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