List of variants in gene combination LOC126806427, TTN reported as uncertain significance for hereditary skeletal muscle disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn)	rs17354992	0.00698
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn)	rs72677225	0.00512
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly)	rs201057307	0.00033
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=)	rs72677223	0.00028
NM_001267550.2(TTN):c.45014T>C (p.Leu15005Pro)	rs369992659	0.00015
NM_001267550.2(TTN):c.44978G>A (p.Gly14993Glu)	rs200931793	0.00006
NM_001267550.2(TTN):c.45054G>A (p.Ala15018=)	rs781392140	0.00004
NM_001267550.2(TTN):c.45128G>A (p.Ser15043Asn)	rs376144178	0.00004
NM_001267550.2(TTN):c.45199G>A (p.Asp15067Asn)	rs370904881	0.00004
NM_001267550.2(TTN):c.45212T>C (p.Ile15071Thr)	rs184078045	0.00004
NM_001267550.2(TTN):c.44987G>A (p.Arg14996His)	rs762128685	0.00003
NM_001267550.2(TTN):c.44998A>G (p.Ile15000Val)	rs775264673	0.00001
NM_001267550.2(TTN):c.45505G>A (p.Ala15169Thr)	rs759247684	0.00001
NM_001267550.2(TTN):c.45589A>G (p.Arg15197Gly)	rs748906368	0.00001
NM_001267550.2(TTN):c.44993T>C (p.Leu14998Pro)	rs1553719829
NM_001267550.2(TTN):c.44999T>C (p.Ile15000Thr)	rs886055275
NM_001267550.2(TTN):c.45001A>C (p.Asn15001His)	rs373109469
NM_001267550.2(TTN):c.45052G>C (p.Ala15018Pro)	rs1060500472
NM_001267550.2(TTN):c.45082+4A>T
NM_001267550.2(TTN):c.45082+5G>A	rs2058337645
NM_001267550.2(TTN):c.45349+3A>G	rs1553718424
NM_001267550.2(TTN):c.45449T>G (p.Val15150Gly)	rs1060500496
NM_001267550.2(TTN):c.45601C>G (p.His15201Asp)	rs794729438
NM_133378.4(TTN):c.37385_37387delAAG	rs759525338

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