List of variants in gene MYPN reported as pathogenic by OMIM

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)	rs71534278	0.00318
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys)	rs140148105	0.00130
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met)	rs71534280	0.00083
NM_032578.4(MYPN):c.1129C>T (p.Arg377Ter)	rs781261060	0.00002
NM_032578.4(MYPN):c.3263G>A (p.Arg1088His)	rs71584501	0.00001
NM_032578.4(MYPN):c.1585C>T (p.Gln529Ter)	rs199476408
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.2882C>T (p.Pro961Leu)	rs864621995
NM_032578.4(MYPN):c.3076-2A>C	rs1057519571
NM_032578.4(MYPN):c.3169C>T (p.Arg1057Ter)	rs1057519572
NM_032578.4(MYPN):c.3214C>T (p.Arg1072Ter)	rs1057519573

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