List of variants in gene combination LOC126806430, TTN reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=)	rs66523653	0.01518
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser)	rs72648949	0.00262
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser)	rs191692293	0.00188
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile)	rs149131555	0.00184
NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val)	rs145204073	0.00146
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser)	rs184412722	0.00111
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys)	rs189127014	0.00053
NM_001267550.2(TTN):c.18407G>A (p.Arg6136Gln)	rs117551279	0.00016
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly)	rs370812788	0.00011
NM_001267550.2(TTN):c.18470T>C (p.Ile6157Thr)	rs371882162	0.00009
NM_001267550.2(TTN):c.18363G>A (p.Gln6121=)	rs375032616	0.00003
NM_001267550.2(TTN):c.18589+5G>A	rs763752372	0.00002
NM_001267550.2(TTN):c.18669G>A (p.Thr6223=)	rs772600691	0.00001

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