List of variants in gene MYPN reported as pathogenic for hereditary skeletal muscle disorder

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_032578.4(MYPN):c.1129C>T (p.Arg377Ter)	rs781261060	0.00002
NM_032578.4(MYPN):c.2653C>T (p.Arg885Ter)	rs199476412	0.00001
NM_032578.4(MYPN):c.1973+1G>C
NM_032578.4(MYPN):c.1974-2A>C
NM_032578.4(MYPN):c.2003del (p.Asn668fs)	rs1057519570
NM_032578.4(MYPN):c.3076-2A>C	rs1057519571
NM_032578.4(MYPN):c.3158+1G>A
NM_032578.4(MYPN):c.3169C>T (p.Arg1057Ter)	rs1057519572
NM_032578.4(MYPN):c.3214C>T (p.Arg1072Ter)	rs1057519573

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