List of variants in gene TNNT1 reported as pathogenic for Nemaline myopathy 5

Minimum submission review status:		Collection method:
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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_003283.6(TNNT1):c.538G>T (p.Glu180Ter)	rs80358249	0.00016
NM_003283.6(TNNT1):c.309+1G>A	rs149559898	0.00001
NC_000019.10:g.(?_55132793)_(55132961_55133886)del
NC_000019.9:g.(?_55652544)_(55656943_?)del
NM_003283.6(TNNT1):c.120dup (p.Lys41fs)	rs1555859304
NM_003283.6(TNNT1):c.16G>T (p.Glu6Ter)
NM_003283.6(TNNT1):c.334G>T (p.Glu112Ter)
NM_003283.6(TNNT1):c.353del (p.Thr118fs)	rs2085439767
NM_003283.6(TNNT1):c.415G>T (p.Glu139Ter)	rs1250741190
NM_003283.6(TNNT1):c.452del (p.Lys151fs)	rs2085385176
NM_003283.6(TNNT1):c.61dup (p.Glu21fs)
NM_003283.6(TNNT1):c.626G>A (p.Trp209Ter)
NM_003283.6(TNNT1):c.695dup (p.Leu233fs)	rs2085299661
NM_003283.6(TNNT1):c.74-67C>A
NM_003283.6(TNNT1):c.78del (p.Glu27fs)	rs1224321111

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