List of variants in gene GJB2 reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

Minimum submission review status:		Collection method:
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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP
NM_004004.6(GJB2):c.171G>A (p.Gln57=)	rs1064797175
NM_004004.6(GJB2):c.23C>T (p.Thr8Met)	rs529500747
NM_004004.6(GJB2):c.32_45del (p.Gly11fs)	rs1290698257
NM_004004.6(GJB2):c.35dup (p.Val13fs)	rs80338939
NM_004004.6(GJB2):c.487A>G (p.Met163Val)	rs80338949

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