List of variants in gene CASQ2 reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

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: 42

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HGVS	dbSNP	gnomAD frequency
NM_001232.4(CASQ2):c.*503G>A	rs72554068	0.00381
NM_001232.3(CASQ2):c.-234C>A	rs553316024	0.00067
NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser)	rs28730713	0.00024
NM_001232.4(CASQ2):c.*929C>T	rs547458797	0.00019
NM_001232.4(CASQ2):c.338G>A (p.Ser113Asn)	rs199750975	0.00014
NM_001232.3(CASQ2):c.-225G>A	rs535999427	0.00011
NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn)	rs368007942	0.00010
NM_001232.4(CASQ2):c.*457C>T	rs375002557	0.00009
NM_001232.4(CASQ2):c.235C>T (p.Leu79Phe)	rs771298193	0.00009
NM_001232.4(CASQ2):c.748C>T (p.Arg250Cys)	rs151115064	0.00008
NM_001232.4(CASQ2):c.758G>A (p.Arg253His)	rs199571249	0.00008
NM_001232.4(CASQ2):c.860T>A (p.Ile287Asn)	rs368165922	0.00008
NM_001232.4(CASQ2):c.475G>A (p.Glu159Lys)	rs375598471	0.00007
NM_001232.4(CASQ2):c.503T>C (p.Ile168Thr)	rs148057999	0.00007
NM_001232.4(CASQ2):c.158G>T (p.Cys53Phe)	rs151168851	0.00005
NM_001232.4(CASQ2):c.376G>C (p.Asp126His)	rs727502908	0.00004
NM_001232.4(CASQ2):c.491A>G (p.Tyr164Cys)	rs72554062	0.00003
NM_001232.4(CASQ2):c.752G>A (p.Arg251His)	rs200265771	0.00003
NM_001232.4(CASQ2):c.943G>A (p.Val315Ile)	rs771188512	0.00003
NM_001232.4(CASQ2):c.633G>T (p.Met211Ile)	rs377762175	0.00002
NM_001232.4(CASQ2):c.893A>G (p.Asn298Ser)	rs548536938	0.00002
NM_001232.4(CASQ2):c.1006G>A (p.Val336Ile)	rs886045160	0.00001
NM_001232.4(CASQ2):c.1081T>A (p.Trp361Arg)	rs375811174	0.00001
NM_001232.4(CASQ2):c.409T>C (p.Phe137Leu)	rs762328417	0.00001
NM_001232.4(CASQ2):c.482T>C (p.Ile161Thr)	rs151201435	0.00001
NM_001232.4(CASQ2):c.518G>T (p.Ser173Ile)	rs786205790	0.00001
NM_001232.4(CASQ2):c.615G>T (p.Lys205Asn)	rs758082383	0.00001
NM_001232.4(CASQ2):c.793T>G (p.Leu265Val)	rs772419873	0.00001
NM_001232.4(CASQ2):c.83A>G (p.Tyr28Cys)	rs1230753325	0.00001
NM_001232.4(CASQ2):c.877C>T (p.Arg293Trp)	rs201306936	0.00001
NM_001232.4(CASQ2):c.971T>C (p.Ile324Thr)	rs369403991	0.00001
NM_001232.4(CASQ2):c.*332A>T	rs758724908
NM_001232.4(CASQ2):c.-206_-205dup	rs72554067
NM_001232.4(CASQ2):c.-212_-211insATGTGT	rs886045162
NM_001232.4(CASQ2):c.-218delinsCGTGCGTGC	rs886045163
NM_001232.4(CASQ2):c.-219_-218insCGTGTG	rs886045164
NM_001232.4(CASQ2):c.1030A>T (p.Met344Leu)	rs1295335060
NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup)	rs72554069
NM_001232.4(CASQ2):c.324TGA[1] (p.Asp109del)	rs1358515759
NM_001232.4(CASQ2):c.326A>T (p.Asp109Val)	rs946911897
NM_001232.4(CASQ2):c.691C>T (p.Pro231Ser)	rs749796276
NM_001232.4(CASQ2):c.926A>T (p.Asp309Val)	rs72703607

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