List of variants in gene combination LOC126806420, TTN 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: 38

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys)	rs72648278	0.00041
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg)	rs56061641	0.00022
NM_001267550.2(TTN):c.100295G>A (p.Arg33432His)	rs374876608	0.00019
NM_001267550.2(TTN):c.100049C>T (p.Thr33350Ile)	rs370300135	0.00016
NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr)	rs201112096	0.00011
NM_001267550.2(TTN):c.100058T>C (p.Ile33353Thr)	rs138234724	0.00010
NM_001267550.2(TTN):c.100315T>C (p.Trp33439Arg)	rs545443009	0.00006
NM_001267550.2(TTN):c.99922G>A (p.Ala33308Thr)	rs201226974	0.00005
NM_001267550.2(TTN):c.100163G>A (p.Ser33388Asn)	rs745406517	0.00004
NM_001267550.2(TTN):c.99752A>G (p.Tyr33251Cys)	rs377456237	0.00003
NM_001267550.2(TTN):c.100018C>A (p.Gln33340Lys)	rs558954116	0.00002
NM_001267550.2(TTN):c.100117G>A (p.Gly33373Ser)	rs55880786	0.00002
NM_001267550.2(TTN):c.99861A>G (p.Ile33287Met)	rs758948672	0.00002
NM_001267550.2(TTN):c.100204A>G (p.Thr33402Ala)	rs777018654	0.00001
NM_001267550.2(TTN):c.99836T>G (p.Val33279Gly)	rs770098799	0.00001
NM_001267550.2(TTN):c.99900C>T (p.Ile33300=)	rs747130957	0.00001
NM_001267550.2(TTN):c.99913A>G (p.Lys33305Glu)	rs1553503789	0.00001
NM_001267550.2(TTN):c.100060G>C (p.Val33354Leu)	rs879221791
NM_001267550.2(TTN):c.100133T>G (p.Leu33378Arg)	rs1060500454
NM_001267550.2(TTN):c.100171+3G>A
NM_001267550.2(TTN):c.100172-17dup	rs397517782
NM_001267550.2(TTN):c.100172-3T>C	rs1312922352
NM_001267550.2(TTN):c.100194A>T (p.Lys33398Asn)	rs1060500553
NM_001267550.2(TTN):c.100244C>T (p.Pro33415Leu)	rs72648282
NM_001267550.2(TTN):c.99631G>A (p.Gly33211Ser)	rs1553504771
NM_001267550.2(TTN):c.99643C>T (p.Arg33215Trp)
NM_001267550.2(TTN):c.99667C>T (p.Arg33223Cys)
NM_001267550.2(TTN):c.99727A>G (p.Ile33243Val)	rs1553504488
NM_001267550.2(TTN):c.99774T>A (p.Asn33258Lys)	rs758792040
NM_001267550.2(TTN):c.99787A>G (p.Thr33263Ala)	rs369648529
NM_001267550.2(TTN):c.99814C>T (p.Leu33272Phe)	rs397517780
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu)	rs397517781
NM_001267550.2(TTN):c.99865+2T>C
NM_001267550.2(TTN):c.99865+3A>T	rs1692081223
NM_001267550.2(TTN):c.99877_99878delinsGT (p.Lys33293Val)	rs2154138101
NM_001267550.2(TTN):c.99903A>G (p.Glu33301=)	rs886055227
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys)	rs775769503
NR_038272.1(TTN-AS1):n.450del

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