List of variants studied for cranial nerve neuropathy by Center for Personalized Medicine, Children's Hospital Los Angeles

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001379451.1(BCORL1):c.532A>G (p.Thr178Ala)	rs778220343	0.00004
NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter)	rs765379963	0.00002
NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr)	rs1356639316	0.00001
NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys)	rs185476065	0.00001
NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter)	rs771409809	0.00001
NM_001379110.1(SLC9A6):c.1662-19_1662-3del	rs1569525894
NM_001822.7(CHN1):c.667G>A (p.Ala223Thr)	rs1558939623
NM_005051.3(QARS1):c.1430A>G (p.Tyr477Cys)	rs1172486173
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup)	rs398124211
NM_005654.6(NR2F1):c.265T>C (p.Cys89Arg)	rs1561523716

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