List of variants in gene TCAP reported as uncertain significance for hereditary skeletal muscle disorder

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: 36

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HGVS	dbSNP	gnomAD frequency
NM_003673.4(TCAP):c.*395C>T	rs45540732	0.00792
NM_003673.4(TCAP):c.*54G>A	rs45592941	0.00433
NM_003673.4(TCAP):c.*199G>T	rs45503594	0.00371
NM_003673.4(TCAP):c.*76G>T	rs45506294	0.00248
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu)	rs45495192	0.00113
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln)	rs146906267	0.00051
NM_003673.4(TCAP):c.*297C>T	rs772638575	0.00034
NM_003673.4(TCAP):c.60C>G (p.Ala20=)	rs146502276	0.00034
NM_003673.4(TCAP):c.458G>A (p.Arg153His)	rs149585781	0.00021
NM_003673.4(TCAP):c.337C>T (p.Leu113Phe)	rs372312912	0.00014
NM_003673.4(TCAP):c.209G>A (p.Arg70Gln)	rs552865793	0.00012
NM_003673.4(TCAP):c.*292G>A	rs185210946	0.00010
NM_003673.4(TCAP):c.223G>A (p.Gly75Ser)	rs753744791	0.00010
NM_003673.4(TCAP):c.388C>T (p.Arg130Cys)	rs374886575	0.00009
NM_003673.4(TCAP):c.448G>A (p.Gly150Ser)	rs762850913	0.00009
NM_003673.4(TCAP):c.97C>T (p.Arg33Trp)	rs145524909	0.00009
NM_003673.4(TCAP):c.*128G>A	rs1019098438	0.00007
NM_003673.4(TCAP):c.113G>T (p.Cys38Phe)	rs375310569	0.00005
NM_003673.4(TCAP):c.111-13C>T	rs773913117	0.00003
NM_003673.4(TCAP):c.208C>T (p.Arg70Trp)	rs775636212	0.00003
NM_003673.4(TCAP):c.194C>T (p.Pro65Leu)	rs2057250642	0.00001
NM_003673.4(TCAP):c.282C>T (p.Phe94=)	rs749565002	0.00001
NM_003673.4(TCAP):c.37G>A (p.Glu13Lys)	rs1042724474	0.00001
NM_003673.4(TCAP):c.389G>A (p.Arg130His)	rs147503632	0.00001
NM_003673.4(TCAP):c.401C>A (p.Ala134Asp)	rs786205287	0.00001
NM_003673.4(TCAP):c.98G>A (p.Arg33Gln)	rs1085307822	0.00001
NM_003673.4(TCAP):c.*418C>T	rs45500896
NM_003673.4(TCAP):c.111-13C>A	rs773913117
NM_003673.4(TCAP):c.294_295delinsAG (p.Met99Val)	rs2057251619
NM_003673.4(TCAP):c.313G>A (p.Glu105Lys)	rs146906267
NM_003673.4(TCAP):c.341A>G (p.Gln114Arg)	rs1355624192
NM_003673.4(TCAP):c.415C>T (p.Gln139Ter)	rs2145074459
NM_003673.4(TCAP):c.457C>A (p.Arg153Ser)	rs761498487
NM_003673.4(TCAP):c.469T>A (p.Ser157Thr)
NM_003673.4(TCAP):c.478A>G (p.Met160Val)	rs1057106389
NM_003673.4(TCAP):c.50_51delinsCT (p.Arg17Pro)	rs1555606961

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