ClinVar Miner

List of variants in gene SZT2 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 40
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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.5905C>T (p.Arg1969Ter) rs764896693 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.9269G>A (p.Arg3090His) rs374490896 0.00001
NM_001365999.1(SZT2):c.9286+1G>A rs1655775567 0.00001
NM_001365999.1(SZT2):c.10087-1G>C
NM_001365999.1(SZT2):c.1091-1G>A rs1652173183
NM_001365999.1(SZT2):c.1261+1G>A rs2153932173
NM_001365999.1(SZT2):c.1497-1G>A
NM_001365999.1(SZT2):c.153+1G>A rs1649902998
NM_001365999.1(SZT2):c.2255+1G>T rs989588546
NM_001365999.1(SZT2):c.3433+1G>A
NM_001365999.1(SZT2):c.4309-1G>A rs1653665864
NM_001365999.1(SZT2):c.4370TCT[1] (p.Phe1458del) rs587777099
NM_001365999.1(SZT2):c.4480+1G>T
NM_001365999.1(SZT2):c.498+1G>C rs766399416
NM_001365999.1(SZT2):c.5088+2T>C rs552956642
NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del) rs746200792
NM_001365999.1(SZT2):c.6291-2A>G
NM_001365999.1(SZT2):c.631-1_634del
NM_001365999.1(SZT2):c.6324G>A (p.Trp2108Ter) rs1570696636
NM_001365999.1(SZT2):c.6397-1G>A
NM_001365999.1(SZT2):c.6397-1G>C
NM_001365999.1(SZT2):c.6508+1G>A
NM_001365999.1(SZT2):c.6508+1G>T
NM_001365999.1(SZT2):c.6627+2T>G rs2153935278
NM_001365999.1(SZT2):c.7210+1G>T rs1227738008
NM_001365999.1(SZT2):c.7255C>T (p.Arg2419Ter)
NM_001365999.1(SZT2):c.773-2A>G
NM_001365999.1(SZT2):c.7873+1G>T
NM_001365999.1(SZT2):c.7873+2T>C rs1655125488
NM_001365999.1(SZT2):c.7874-1G>A
NM_001365999.1(SZT2):c.8626-2A>G
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs) rs745420974
NM_001365999.1(SZT2):c.9017_9020del (p.Lys3006fs) rs756625074
NM_001365999.1(SZT2):c.9287-95_9309del rs2153936775

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