List of variants in gene SYNJ1 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: 22

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HGVS	dbSNP	gnomAD frequency
NM_203446.3(SYNJ1):c.2120T>C (p.Ile707Thr)	rs147929290	0.00074
NM_203446.3(SYNJ1):c.3431G>A (p.Gly1144Asp)	rs142964720	0.00051
NM_203446.3(SYNJ1):c.2874+5G>A	rs371765751	0.00024
NM_203446.3(SYNJ1):c.3097T>C (p.Ser1033Pro)	rs61752559	0.00011
NM_203446.3(SYNJ1):c.3403C>T (p.Pro1135Ser)	rs151126056	0.00011
NM_203446.3(SYNJ1):c.2254G>T (p.Asp752Tyr)	rs145978776	0.00010
NM_203446.3(SYNJ1):c.38T>C (p.Leu13Ser)	rs779059079	0.00010
NM_203446.3(SYNJ1):c.3767C>T (p.Pro1256Leu)	rs147025577	0.00006
NM_203446.3(SYNJ1):c.1535C>T (p.Ala512Val)	rs115989459	0.00005
NM_203446.3(SYNJ1):c.359G>A (p.Arg120Gln)	rs768435291	0.00004
NM_203446.3(SYNJ1):c.3602G>A (p.Arg1201His)	rs376836481	0.00004
NM_203446.3(SYNJ1):c.3595C>T (p.Pro1199Ser)	rs760863245	0.00003
NM_203446.3(SYNJ1):c.-59G>A	rs771338654	0.00002
NM_203446.3(SYNJ1):c.343C>T (p.Arg115Cys)	rs370189840	0.00002
NM_203446.3(SYNJ1):c.2786T>C (p.Ile929Thr)	rs755258923	0.00001
NM_203446.3(SYNJ1):c.757G>C (p.Val253Leu)	rs890834213	0.00001
NM_203446.3(SYNJ1):c.*678C>G	rs760299495
NM_203446.3(SYNJ1):c.1400_1404delinsCCAAGCAA (p.Phe467_Phe468delinsSerLysGln)	rs1555900406
NM_203446.3(SYNJ1):c.2330A>G (p.Lys777Arg)
NM_203446.3(SYNJ1):c.3067G>A (p.Glu1023Lys)	rs1397187104
NM_203446.3(SYNJ1):c.3607G>A (p.Gly1203Arg)	rs2145726317
NM_203446.3(SYNJ1):c.46C>T (p.Pro16Ser)	rs1487423508

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