List of variants in gene DYSF reported as likely pathogenic by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_001130987.2(DYSF):c.3113del (p.Pro1038fs)	rs753711667
NM_001130987.2(DYSF):c.3756del (p.Thr1251_Tyr1252insTer)	rs1574264671
NM_001130987.2(DYSF):c.3762del (p.Asp1255fs)	rs758107024
NM_001130987.2(DYSF):c.3991C>T (p.Gln1331Ter)	rs1558613592
NM_001130987.2(DYSF):c.4179del (p.Lys1394fs)	rs1574340607
NM_001130987.2(DYSF):c.4221+5del	rs1574341049
NM_001130987.2(DYSF):c.4691del (p.Phe1564fs)	rs1572994572
NM_001130987.2(DYSF):c.4822C>T (p.Gln1608Ter)	rs1573009747
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp)	rs863225021
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys)	rs786205084

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