ClinVar Miner

List of variants in gene SZT2 reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_001365999.1(SZT2):c.4141C>T (p.Arg1381Ter) rs777424455 0.00003
NM_001365999.1(SZT2):c.5872C>T (p.Arg1958Ter) rs145577757 0.00003
NM_001365999.1(SZT2):c.2363C>G (p.Ser788Ter) rs769366055 0.00002
NM_001365999.1(SZT2):c.2476C>T (p.Arg826Ter) rs767342365 0.00001
NM_001365999.1(SZT2):c.2929+1G>A rs1295389410 0.00001
NM_001365999.1(SZT2):c.3640C>T (p.Arg1214Ter) rs761810492 0.00001
NM_001365999.1(SZT2):c.409C>T (p.Arg137Ter) rs1650058382 0.00001
NM_001365999.1(SZT2):c.5905C>T (p.Arg1969Ter) rs764896693 0.00001
NM_001365999.1(SZT2):c.6976C>T (p.Arg2326Ter) rs1654854600 0.00001
NM_001365999.1(SZT2):c.8869C>T (p.Arg2957Ter) rs746704533 0.00001
NM_001365999.1(SZT2):c.9478C>T (p.Gln3160Ter) rs1570741194 0.00001
NM_001365999.1(SZT2):c.9775C>T (p.Arg3259Ter) rs1005930319 0.00001
NM_001365999.1(SZT2):c.9874C>T (p.Arg3292Ter) rs1302034044 0.00001
NM_001365999.1(SZT2):c.9999G>A (p.Trp3333Ter) rs980459888 0.00001
NM_001365999.1(SZT2):c.10002C>G (p.Tyr3334Ter)
NM_001365999.1(SZT2):c.1086C>G (p.Tyr362Ter) rs756731280
NM_001365999.1(SZT2):c.1096C>T (p.Gln366Ter)
NM_001365999.1(SZT2):c.1222C>T (p.Arg408Ter)
NM_001365999.1(SZT2):c.1363C>T (p.Arg455Ter)
NM_001365999.1(SZT2):c.1796dup (p.Ser601fs) rs2153932502
NM_001365999.1(SZT2):c.1979del (p.Pro660fs) rs2153932585
NM_001365999.1(SZT2):c.2150del (p.Gly717fs)
NM_001365999.1(SZT2):c.2872C>T (p.Gln958Ter)
NM_001365999.1(SZT2):c.3352C>T (p.Gln1118Ter)
NM_001365999.1(SZT2):c.3648dup (p.Gln1217fs)
NM_001365999.1(SZT2):c.3711T>A (p.Cys1237Ter)
NM_001365999.1(SZT2):c.3808C>T (p.Gln1270Ter)
NM_001365999.1(SZT2):c.3946_3947del (p.Gln1316fs) rs758124360
NM_001365999.1(SZT2):c.4073del (p.Pro1358fs)
NM_001365999.1(SZT2):c.4120G>T (p.Glu1374Ter)
NM_001365999.1(SZT2):c.4270A>T (p.Arg1424Ter)
NM_001365999.1(SZT2):c.4396C>T (p.Arg1466Ter) rs766090540
NM_001365999.1(SZT2):c.4474dup (p.Glu1492fs)
NM_001365999.1(SZT2):c.4610_4611del (p.Val1537fs)
NM_001365999.1(SZT2):c.4742C>G (p.Ser1581Ter) rs1168668932
NM_001365999.1(SZT2):c.4816C>T (p.Arg1606Ter) rs909158021
NM_001365999.1(SZT2):c.4999_5000dup (p.Leu1668fs) rs1653847504
NM_001365999.1(SZT2):c.5146C>T (p.Gln1716Ter) rs1653916498
NM_001365999.1(SZT2):c.5188dup (p.Ser1730fs) rs1653925536
NM_001365999.1(SZT2):c.5421_5422dup (p.Ala1808fs) rs1654007685
NM_001365999.1(SZT2):c.5440del (p.Glu1814fs) rs2153934176
NM_001365999.1(SZT2):c.5501del (p.Leu1834fs)
NM_001365999.1(SZT2):c.558dup (p.Tyr187fs)
NM_001365999.1(SZT2):c.5630_5633del (p.Asp1877fs) rs1367454316
NM_001365999.1(SZT2):c.5814dup (p.Arg1939fs)
NM_001365999.1(SZT2):c.6092_6093inv (p.Phe2031Ter)
NM_001365999.1(SZT2):c.610C>T (p.Gln204Ter) rs1651557199
NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del) rs746200792
NM_001365999.1(SZT2):c.6126G>A (p.Trp2042Ter) rs2153934979
NM_001365999.1(SZT2):c.6139C>T (p.Arg2047Ter) rs766341332
NM_001365999.1(SZT2):c.6178dup (p.Val2060fs)
NM_001365999.1(SZT2):c.6231del (p.Asn2078fs)
NM_001365999.1(SZT2):c.6250_6253del (p.Val2084fs) rs1654576202
NM_001365999.1(SZT2):c.6282C>G (p.Tyr2094Ter)
NM_001365999.1(SZT2):c.6361C>T (p.Arg2121Ter) rs550692594
NM_001365999.1(SZT2):c.6384dup (p.Glu2129Ter)
NM_001365999.1(SZT2):c.7019del (p.Pro2340fs) rs1654858951
NM_001365999.1(SZT2):c.7080G>A (p.Trp2360Ter) rs932654754
NM_001365999.1(SZT2):c.7123C>T (p.Arg2375Ter) rs761487760
NM_001365999.1(SZT2):c.7255C>T (p.Arg2419Ter)
NM_001365999.1(SZT2):c.7275del (p.Ala2426fs) rs1557589101
NM_001365999.1(SZT2):c.7280_7281del (p.Pro2427fs) rs2153935570
NM_001365999.1(SZT2):c.7488dup (p.Asp2497fs)
NM_001365999.1(SZT2):c.7579C>T (p.Gln2527Ter)
NM_001365999.1(SZT2):c.7619_7620del (p.Ser2540fs)
NM_001365999.1(SZT2):c.7698del (p.Ser2567fs)
NM_001365999.1(SZT2):c.7735C>T (p.Gln2579Ter) rs2153935815
NM_001365999.1(SZT2):c.8054_8066del (p.Gln2685fs)
NM_001365999.1(SZT2):c.8094_8095dup (p.Lys2699fs) rs2153935951
NM_001365999.1(SZT2):c.8140C>T (p.Arg2714Ter) rs1438773569
NM_001365999.1(SZT2):c.8242_8245del (p.Ser2748fs)
NM_001365999.1(SZT2):c.8285del (p.Phe2762fs) rs2153936018
NM_001365999.1(SZT2):c.82C>T (p.Arg28Ter) rs776627066
NM_001365999.1(SZT2):c.8497del (p.Ser2833fs) rs1655275276
NM_001365999.1(SZT2):c.8580_8587del (p.Leu2862fs)
NM_001365999.1(SZT2):c.8639_8640del (p.Pro2880fs) rs756611351
NM_001365999.1(SZT2):c.8659C>T (p.Arg2887Ter) rs200178393
NM_001365999.1(SZT2):c.8710del (p.Arg2904fs) rs1655343130
NM_001365999.1(SZT2):c.8716G>T (p.Glu2906Ter)
NM_001365999.1(SZT2):c.880-1G>C rs1652116565
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs) rs745420974
NM_001365999.1(SZT2):c.8811dup (p.Ser2938fs) rs745420974
NM_001365999.1(SZT2):c.8995C>T (p.Gln2999Ter) rs1570733929
NM_001365999.1(SZT2):c.9040C>T (p.Arg3014Ter)
NM_001365999.1(SZT2):c.9279_9286del (p.Ile3093fs)
NM_001365999.1(SZT2):c.9494_9501del (p.Val3165fs)
NM_001365999.1(SZT2):c.9508_9511del (p.Cys3170fs) rs1655878450
NM_001365999.1(SZT2):c.9715dup (p.Ile3239fs) rs1655927823

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