ClinVar Miner

List of variants in gene CHSY1 reported as benign for Temtamy preaxial brachydactyly syndrome

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_014918.5(CHSY1):c.2322C>A (p.Thr774=) rs8024370 0.67566
NM_014918.5(CHSY1):c.1905G>C (p.Val635=) rs28364839 0.27694
NM_014918.5(CHSY1):c.2114G>A (p.Arg705Gln) rs62621399 0.10677
NM_014918.5(CHSY1):c.1075C>T (p.Pro359Ser) rs3743193 0.09931
NM_014918.5(CHSY1):c.1302C>T (p.Tyr434=) rs2005180 0.05576
NM_014918.5(CHSY1):c.1763G>C (p.Arg588Thr) rs62621400 0.04196
NM_014918.5(CHSY1):c.1473A>G (p.Gln491=) rs76457230 0.02740
NM_014918.5(CHSY1):c.1896C>T (p.Val632=) rs3803423 0.01721
NM_014918.5(CHSY1):c.1052A>G (p.Lys351Arg) rs74752435 0.01562
NM_014918.5(CHSY1):c.1812G>A (p.Val604=) rs3803422 0.01536
NM_014918.5(CHSY1):c.1566G>A (p.Ser522=) rs74784454 0.00742
NM_014918.5(CHSY1):c.333G>A (p.Lys111=) rs117481449 0.00530
NM_014918.5(CHSY1):c.423C>T (p.Asp141=) rs115447262 0.00473
NM_014918.5(CHSY1):c.1518T>C (p.Phe506=) rs145002451 0.00402
NM_014918.5(CHSY1):c.1325T>C (p.Met442Thr) rs148193087 0.00329
NM_014918.5(CHSY1):c.2088G>A (p.Thr696=) rs150245745 0.00223
NM_014918.5(CHSY1):c.1176C>T (p.Pro392=) rs147287474 0.00175
NM_014918.5(CHSY1):c.975C>T (p.Ser325=) rs142783588 0.00124
NM_014918.5(CHSY1):c.534A>G (p.Gly178=) rs3743192 0.00111
NM_014918.5(CHSY1):c.1725C>T (p.Asp575=) rs151237975 0.00091
NM_014918.5(CHSY1):c.1602A>T (p.Ile534=) rs146586939 0.00089
NM_014918.5(CHSY1):c.1218C>T (p.Asp406=) rs113219895 0.00061
NM_014918.5(CHSY1):c.573C>T (p.Ser191=) rs147152103 0.00052
NM_014918.5(CHSY1):c.1701C>T (p.Leu567=) rs192677621 0.00004
NM_014918.5(CHSY1):c.2202G>A (p.Thr734=)
NM_014918.5(CHSY1):c.2232C>T (p.His744=)
NM_014918.5(CHSY1):c.666G>A (p.Gly222=) rs74545602
NM_014918.5(CHSY1):c.817-11dup rs769105634

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