ClinVar Miner

List of variants in gene SZT2 reported as uncertain significance by Athena Diagnostics Inc

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001365999.1(SZT2):c.4898C>T (p.Ser1633Leu) rs138762270 0.00197
NM_001365999.1(SZT2):c.6977G>A (p.Arg2326Gln) rs146140125 0.00068
NM_001365999.1(SZT2):c.6077C>A (p.Ala2026Glu) rs140427193 0.00039
NM_001365999.1(SZT2):c.2888A>G (p.Lys963Arg) rs144176855 0.00025
NM_001365999.1(SZT2):c.7513C>T (p.Arg2505Cys) rs199830565 0.00024
NM_001365999.1(SZT2):c.368A>G (p.His123Arg) rs147519875 0.00021
NM_001365999.1(SZT2):c.8216C>T (p.Pro2739Leu) rs774032264 0.00006
NM_001365999.1(SZT2):c.7743-4A>G rs368440874 0.00004
NM_001365999.1(SZT2):c.1000G>T (p.Gly334Cys) rs918688605 0.00002
NM_001365999.1(SZT2):c.1487C>T (p.Thr496Met) rs781377160 0.00001
NM_001365999.1(SZT2):c.629A>G (p.Gln210Arg) rs1557531808 0.00001
NM_001365999.1(SZT2):c.7681T>C (p.Phe2561Leu) rs148506515 0.00001
NM_001365999.1(SZT2):c.7718G>C (p.Ser2573Thr) rs755325371 0.00001
NM_001365999.1(SZT2):c.4187G>A (p.Ser1396Asn) rs1557564323
NM_001365999.1(SZT2):c.7692_7694del (p.Val2565del) rs1557591600
NM_001365999.1(SZT2):c.8330G>C (p.Ser2777Thr) rs1570720687
NM_001365999.1(SZT2):c.9439A>G (p.Ser3147Gly) rs754468503
NM_015284.3(SZT2):c.4230+4_4230+7dup

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