List of variants in gene combination POLR2F, SOX10 reported as likely pathogenic by Center for Human Genetics, Inc, Center for Human Genetics, Inc

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_006941.4(SOX10):c.1095dup (p.Pro366fs)	rs1555937395
NM_006941.4(SOX10):c.1107del (p.His368_Tyr369insTer)	rs1555937390
NM_006941.4(SOX10):c.141del (p.Pro48fs)	rs1064796049
NM_006941.4(SOX10):c.255_274dup (p.Val92fs)	rs1555939476
NM_006941.4(SOX10):c.298_300delinsGG (p.Ser100fs)	rs1555939460
NM_006941.4(SOX10):c.301A>T (p.Lys101Ter)	rs1555939459
NM_006941.4(SOX10):c.364C>G (p.Leu122Val)	rs1555939426
NM_006941.4(SOX10):c.380dup (p.His128fs)	rs1555939421
NM_006941.4(SOX10):c.426G>C (p.Trp142Cys)	rs1555939403
NM_006941.4(SOX10):c.452G>C (p.Arg151Pro)	rs1373797370
NM_006941.4(SOX10):c.586G>T (p.Glu196Ter)	rs763210407
NM_006941.4(SOX10):c.934dup (p.Ser312fs)	rs1555937463

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