List of variants reported as benign for autosomal recessive limb-girdle muscular dystrophy type 2K by Genome-Nilou Lab

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001077365.2(POMT1):c.856-49T>G	rs4740163	0.97653
NM_001077365.2(POMT1):c.986+49G>A	rs10901066	0.88278
NM_001077365.2(POMT1):c.876T>C (p.Thr292=)	rs10901065	0.88277
NM_001077365.2(POMT1):c.1047T>C (p.Asp349=)	rs3739494	0.88273
NM_001077365.2(POMT1):c.428-21T>C	rs11243404	0.88267
NM_001077365.2(POMT1):c.700-48A>G	rs2018621	0.88264
NM_001077365.2(POMT1):c.699+53A>G	rs2296949	0.88248
NM_001077365.2(POMT1):c.*41T>C	rs3739495	0.88174
NM_001077365.2(POMT1):c.1698+48C>G	rs2277152	0.84050
NM_001077365.2(POMT1):c.2003+13C>T	rs4740165	0.84044
NM_001077365.2(POMT1):c.1082+16G>A	rs59515295	0.14451
NM_001077365.2(POMT1):c.699+52C>T	rs3887873	0.12205
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile)	rs4740164	0.04243
NM_001077365.2(POMT1):c.123-5dup	rs148086540

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