ClinVar Miner

List of variants in gene SZT2 reported as pathogenic

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Total variants: 22
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HGVS dbSNP
NM_001365999.1(SZT2):c.105C>G (p.Phe35Leu) rs1553138299
NM_001365999.1(SZT2):c.1496G>T (p.Ser499Ile) rs886041034
NM_001365999.1(SZT2):c.2363C>G (p.Ser788Ter) rs769366055
NM_001365999.1(SZT2):c.2812G>A (p.Ala938Thr) rs143880787
NM_001365999.1(SZT2):c.3977C>T (p.Ala1326Val) rs747241860
NM_001365999.1(SZT2):c.4135C>T (p.Arg1379Trp) rs752473314
NM_001365999.1(SZT2):c.4396C>T (p.Arg1466Ter) rs766090540
NM_001365999.1(SZT2):c.5165G>A (p.Arg1722His) rs562214305
NM_001365999.1(SZT2):c.5515C>T (p.Arg1839Cys) rs147748994
NM_001365999.1(SZT2):c.5938G>A (p.Val1980Met) rs780805483
NM_001365999.1(SZT2):c.7112A>T (p.Glu2371Val) rs1306918506
NM_001365999.1(SZT2):c.7887G>A (p.Met2629Ile) rs748723710
NM_001365999.1(SZT2):c.8639_8640del (p.Pro2880fs)
NM_001365999.1(SZT2):c.8803C>T (p.Arg2935Trp) rs1553154643
NM_001365999.1(SZT2):c.8826-2A>G rs886041594
NM_001365999.1(SZT2):c.8939C>T (p.Thr2980Ile) rs766294629
NM_001365999.1(SZT2):c.8995C>T (p.Gln2999Ter)
NM_001365999.1(SZT2):c.9478C>T (p.Gln3160Ter)
NM_001365999.1(SZT2):c.9999G>A (p.Trp3333Ter)
NM_015284.4(SZT2):c.2092C>T (p.Gln698Ter) rs397515490
NM_015284.4(SZT2):c.73C>T (p.Arg25Ter) rs397515489
NM_015284.4(SZT2):c.8640del (p.Ser2881fs)

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