ClinVar Miner

List of variants in gene SZT2 reported by Bioinformatics Core, Luxembourg Center for Systems Biomedicine

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001365999.1(SZT2):c.2812G>A (p.Ala938Thr) rs143880787 0.00034
NM_001365999.1(SZT2):c.5515C>T (p.Arg1839Cys) rs147748994 0.00010
NM_001365999.1(SZT2):c.3977C>T (p.Ala1326Val) rs747241860 0.00001
NM_001365999.1(SZT2):c.4135C>T (p.Arg1379Trp) rs752473314 0.00001
NM_001365999.1(SZT2):c.5165G>A (p.Arg1722His) rs562214305 0.00001
NM_001365999.1(SZT2):c.7112A>T (p.Glu2371Val) rs1306918506 0.00001
NM_001365999.1(SZT2):c.7887G>A (p.Met2629Ile) rs748723710 0.00001
NM_001365999.1(SZT2):c.8939C>T (p.Thr2980Ile) rs766294629 0.00001
NM_001365999.1(SZT2):c.105C>G (p.Phe35Leu) rs1553138299
NM_001365999.1(SZT2):c.5938G>A (p.Val1980Met) rs780805483
NM_001365999.1(SZT2):c.8803C>T (p.Arg2935Trp) rs1553154643

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