ClinVar Miner

List of variants in gene SZT2 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile) rs76675748 0.00361
NM_001365999.1(SZT2):c.6380A>T (p.Tyr2127Phe) rs149812437 0.00200
NM_001365999.1(SZT2):c.7245C>T (p.Ser2415=) rs142822908 0.00173
NM_001365999.1(SZT2):c.7395T>C (p.Ile2465=) rs78858677 0.00134
NM_001365999.1(SZT2):c.4727G>A (p.Arg1576His) rs143935839 0.00119
NM_001365999.1(SZT2):c.8136C>T (p.Pro2712=) rs2275098 0.00112
NM_001365999.1(SZT2):c.8916+8G>A rs147419780 0.00075
NM_001365999.1(SZT2):c.4647C>T (p.Gly1549=) rs149192929 0.00019
NM_001365999.1(SZT2):c.8039G>A (p.Arg2680His) rs144218947 0.00013
NM_001365999.1(SZT2):c.5772G>T (p.Leu1924=) rs187188981 0.00011
NM_001365999.1(SZT2):c.8817C>T (p.Pro2939=) rs777808688 0.00006
NM_001365999.1(SZT2):c.4503G>A (p.Val1501=) rs367690658 0.00005
NM_001365999.1(SZT2):c.1272A>G (p.Gln424=) rs780157180 0.00004
NM_001365999.1(SZT2):c.4113C>G (p.Ser1371Arg) rs1001442150 0.00003
NM_001365999.1(SZT2):c.5872C>T (p.Arg1958Ter) rs145577757 0.00003
NM_001365999.1(SZT2):c.2477G>A (p.Arg826Gln) rs752495437 0.00001
NM_001365999.1(SZT2):c.5316A>G (p.Glu1772=) rs797046032 0.00001
NM_001365999.1(SZT2):c.654_655del (p.Asp220fs) rs756942804 0.00001
NM_001365999.1(SZT2):c.9269G>A (p.Arg3090His) rs374490896 0.00001
NM_001365999.1(SZT2):c.8182G>C (p.Glu2728Gln) rs1553154186
NM_001365999.1(SZT2):c.8594C>T (p.Pro2865Leu) rs374031590

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