List of variants in gene DYSF reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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.853C>T (p.Arg285Trp)	rs149827237	0.00004
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu)	rs773837400	0.00002
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)	rs150877497	0.00001
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter)	rs886044411	0.00001
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)	rs746243052	0.00001
GRCh37/hg19 2p13.2(chr2:71755428-71755531)x0
NM_001130987.2(DYSF):c.5135del (p.Lys1712fs)	rs1064797253
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs)	rs1057519132
NM_001130987.2(DYSF):c.6335T>G (p.Met2112Arg)
NM_001130987.2(DYSF):c.951+3_951+4del	rs1573663867

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