List of variants in gene MYH3 reported as likely pathogenic by Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_002470.4(MYH3):c.1002+1G>A	rs150951216	0.00002
NM_002470.4(MYH3):c.1400A>C (p.Glu467Ala)	rs2142407941
NM_002470.4(MYH3):c.3062del (p.Ser1020_Leu1021insTer)	rs2142398204
NM_002470.4(MYH3):c.3661_3663del (p.Glu1221del)	rs2142395080
NM_002470.4(MYH3):c.4000del (p.Leu1334fs)	rs2142390113
NM_002470.4(MYH3):c.4244T>G (p.Leu1415Arg)	rs2142388822
NM_002470.4(MYH3):c.5220_5223del (p.Ser1740fs)	rs2142381440
NM_002470.4(MYH3):c.5658+3_5658+6del	rs2142377032
NM_002470.4(MYH3):c.841G>A (p.Glu281Lys)	rs2142413627

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