List of variants in gene combination LOC126861897, MYH7 reported by GeneDx

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.5283+46G>A	rs200205856	0.00065
NM_000257.4(MYH7):c.5283+25G>A	rs201089330	0.00021
NM_000257.4(MYH7):c.5283+19C>T	rs45582836	0.00020
NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr)	rs200303340	0.00005
NM_000257.4(MYH7):c.5253T>C (p.Ala1751=)	rs776282574	0.00004
NM_000257.4(MYH7):c.5280G>A (p.Thr1760=)	rs374803185	0.00003
NM_000257.4(MYH7):c.5229G>T (p.Glu1743Asp)	rs149509691	0.00001
NM_000257.4(MYH7):c.5279C>T (p.Thr1760Met)	rs727505294	0.00001
NM_000257.4(MYH7):c.5215A>C (p.Thr1739Pro)	rs1196094448
NM_000257.4(MYH7):c.5254G>A (p.Glu1752Lys)	rs730880916
NM_000257.4(MYH7):c.5258AGAAGGCCA[1] (p.Lys1756_Ala1758del)	rs1566522846
NM_000257.4(MYH7):c.5263G>T (p.Ala1755Ser)	rs730880814
NM_000257.4(MYH7):c.5279C>A (p.Thr1760Lys)	rs727505294
NM_000257.4(MYH7):c.5281G>A (p.Asp1761Asn)	rs1306082414
NM_000257.4(MYH7):c.5283+11del	rs1356309919
NM_000257.4(MYH7):c.5283+4A>C	rs1892148705
NM_000257.4(MYH7):c.5284-45G>A	rs45468101
NM_000257.4(MYH7):c.5302G>A (p.Glu1768Lys)	rs397516241

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