List of variants in gene MUSK reported 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
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_005592.4(MUSK):c.1991A>G (p.Asn664Ser)	rs55963442	0.00777
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr)	rs55980069	0.00399
NM_005592.4(MUSK):c.320G>A (p.Gly107Glu)	rs55786136	0.00337
NM_005592.4(MUSK):c.1931T>C (p.Val644Ala)	rs41279055	0.00255
NM_005592.4(MUSK):c.666T>C (p.Asn222=)	rs56044404	0.00208
NM_005592.4(MUSK):c.665A>G (p.Asn222Ser)	rs55826142	0.00116
NM_005592.4(MUSK):c.1683G>A (p.Leu561=)	rs192173278	0.00105
NM_005592.4(MUSK):c.2393A>G (p.Tyr798Cys)	rs188840021	0.00049
NM_005592.4(MUSK):c.2203G>A (p.Glu735Lys)	rs138418494	0.00040
NM_005592.4(MUSK):c.1277T>C (p.Met426Thr)	rs368044285	0.00003
NM_005592.4(MUSK):c.2339C>T (p.Thr780Ile)	rs754976866	0.00001
NM_005592.4(MUSK):c.697T>C (p.Cys233Arg)	rs376911820	0.00001
NM_005592.4(MUSK):c.12C>T (p.Leu4=)	rs374456998
NM_005592.4(MUSK):c.648G>A (p.Arg216=)

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