List of variants in gene combination LOC126863188, SHANK3 reported as uncertain significance by GeneDx

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_001372044.2(SHANK3):c.1907C>G (p.Ser636Ter)
NM_001372044.2(SHANK3):c.1962-7C>A	rs1240001131
NM_001372044.2(SHANK3):c.1962C>G (p.His654Gln)	rs201986012
NM_001372044.2(SHANK3):c.1985G>A (p.Arg662Gln)	rs1430967871
NM_001372044.2(SHANK3):c.2010C>G (p.Ile670Met)
NM_001372044.2(SHANK3):c.2029C>T (p.Pro677Ser)
NM_001372044.2(SHANK3):c.2035T>C (p.Phe679Leu)	rs2146808085
NM_001372044.2(SHANK3):c.2044C>T (p.Leu682=)	rs2518405951
NM_001372044.2(SHANK3):c.2074G>C (p.Gly692Arg)	rs2146808174
NM_001372044.2(SHANK3):c.2113_2115del (p.Leu705del)	rs2518406106
NM_001372044.2(SHANK3):c.2116A>G (p.Ile706Val)

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