List of variants in gene TTN studied for Hypertrophic cardiomyopathy 2

Minimum submission review status:		Collection method:
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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.1492G>A (p.Val498Ile)	rs72647851	0.01678
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=)	rs56181243	0.00615
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe)	rs34618570	0.00613
NM_001267550.2(TTN):c.100766-10del	rs749872538
NM_001267550.2(TTN):c.100766-10dup	rs749872538
NM_001267550.2(TTN):c.30683-3del	rs368277751
NM_001267550.2(TTN):c.35959+17C>G
NM_001267550.2(TTN):c.36376T>G (p.Ser12126Ala)
NM_001267550.2(TTN):c.38380+21_38380+23del	rs139167585
NM_001267550.2(TTN):c.53736T>A (p.Val17912=)
NM_001267550.2(TTN):c.57847+19del	rs111496283
NM_001267550.2(TTN):c.57847+7dup	rs111496283
NM_001267550.2(TTN):c.89637T>A (p.Asn29879Lys)

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