ClinVar Miner

List of variants in gene SZT2 reported as likely pathogenic by GeneDx

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001365999.1(SZT2):c.5872C>T (p.Arg1958Ter) rs145577757 0.00003
NM_001365999.1(SZT2):c.6724C>T (p.Arg2242Trp) rs765848129 0.00002
NM_001365999.1(SZT2):c.2476C>T (p.Arg826Ter) rs767342365 0.00001
NM_001365999.1(SZT2):c.3640C>T (p.Arg1214Ter) rs761810492 0.00001
NM_001365999.1(SZT2):c.6836A>C (p.Tyr2279Ser) rs1368205104 0.00001
NM_001365999.1(SZT2):c.6976C>T (p.Arg2326Ter) rs1654854600 0.00001
NM_001365999.1(SZT2):c.1091-1G>A rs1652173183
NM_001365999.1(SZT2):c.153+1G>A rs1649902998
NM_001365999.1(SZT2):c.4370TCT[1] (p.Phe1458del) rs587777099
NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del) rs746200792
NM_001365999.1(SZT2):c.6324G>A (p.Trp2108Ter) rs1570696636
NM_001365999.1(SZT2):c.7255C>T (p.Arg2419Ter)
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs) rs745420974

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