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

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_003673.4(TCAP):c.75G>A (p.Trp25Ter)	rs778851652	0.00001
NM_003673.4(TCAP):c.110+1G>A	rs113187448
NM_003673.4(TCAP):c.110+5G>T	rs794729178
NM_003673.4(TCAP):c.14_15del (p.Glu5fs)	rs757082868
NM_003673.4(TCAP):c.25_31dup (p.Ser11Ter)	rs863224933
NM_003673.4(TCAP):c.32C>A (p.Ser11Ter)	rs45495192
NM_003673.4(TCAP):c.34dup (p.Glu12fs)	rs1555606959

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