List of variants in gene combination LOC126806428, TTN reported as uncertain significance for autosomal recessive disease

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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: 35

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe)	rs114626713	0.00491
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp)	rs72648964	0.00354
NM_001267550.2(TTN):c.21404-4A>G	rs72648965	0.00051
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr)	rs201394117	0.00042
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=)	rs202089818	0.00039
NM_001267550.2(TTN):c.21404-8C>G	rs761542135	0.00010
NM_001267550.2(TTN):c.21119G>A (p.Arg7040Gln)	rs754476903	0.00003
NM_001267550.2(TTN):c.21163G>T (p.Gly7055Trp)	rs375219301	0.00003
NM_001267550.2(TTN):c.21332T>C (p.Met7111Thr)	rs374408615	0.00003
NM_001267550.2(TTN):c.21116-1G>A	rs771575556	0.00002
NM_001267550.2(TTN):c.20869A>T (p.Met6957Leu)	rs375262781	0.00001
NM_001267550.2(TTN):c.20873C>T (p.Thr6958Met)	rs371824963	0.00001
NM_001267550.2(TTN):c.20891C>T (p.Thr6964Met)	rs765257439	0.00001
NM_001267550.2(TTN):c.20986T>C (p.Phe6996Leu)	rs753725329	0.00001
NM_001267550.2(TTN):c.21028G>A (p.Val7010Ile)	rs564660466	0.00001
NM_001267550.2(TTN):c.21118C>T (p.Arg7040Ter)	rs576359448	0.00001
NM_001267550.2(TTN):c.21143G>A (p.Arg7048Gln)	rs148072021	0.00001
NM_001267550.2(TTN):c.21157A>C (p.Thr7053Pro)	rs727504741	0.00001
NM_001267550.2(TTN):c.21172G>C (p.Gly7058Arg)	rs786205401	0.00001
NM_001267550.2(TTN):c.21227C>T (p.Ala7076Val)	rs374625641	0.00001
NM_001267550.2(TTN):c.21273A>G (p.Gln7091=)	rs878903172	0.00001
NC_000002.11:g.(?_179581802)_(179589285_?)dup
NM_001267550.2(TTN):c.20837-1G>A	rs1553914337
NM_001267550.2(TTN):c.21006del (p.Ser7003fs)
NM_001267550.2(TTN):c.21014T>G (p.Leu7005Ter)
NM_001267550.2(TTN):c.21114A>C (p.Ser7038=)	rs879237670
NM_001267550.2(TTN):c.21220del (p.Ser7074fs)	rs2078907250
NM_001267550.2(TTN):c.21291T>A (p.Asn7097Lys)	rs773211607
NM_001267550.2(TTN):c.21292G>A (p.Val7098Ile)	rs878978917
NM_001267550.2(TTN):c.21378A>C (p.Glu7126Asp)	rs786205315
NM_001267550.2(TTN):c.21403+2T>G
NM_001267550.2(TTN):c.21403+5G>A	rs1560709207
NM_001267550.2(TTN):c.21403G>A (p.Glu7135Lys)	rs779787316
NM_001267550.2(TTN):c.21404-1G>C
NM_001267550.2(TTN):c.21404-3_21404-1delinsA	rs2078833835

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