List of variants in gene DYSF reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=)	rs2303596	0.71202
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=)	rs2288355	0.69367
NM_001130987.2(DYSF):c.1449+13C>T	rs4852801	0.60553
NM_001130987.2(DYSF):c.1034-20G>A	rs12713756	0.48623
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=)	rs2303606	0.47852
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=)	rs17718530	0.23571
NM_001130987.2(DYSF):c.6321+15C>T	rs2559082	0.19470
NM_001130987.2(DYSF):c.3086-17G>A	rs3764971	0.18932
NM_001130987.2(DYSF):c.888+11T>C	rs13428076	0.13574
NM_001130987.2(DYSF):c.951+4T>C	rs11903960	0.09951
NM_001130987.2(DYSF):c.239+20G>A	rs12470028	0.08061
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn)	rs115013641	0.00257
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)	rs150877497	0.00001
NM_001130987.2(DYSF):c.3762del (p.Asp1255fs)	rs758107024

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