ClinVar Miner

List of variants in gene SYN1 reported as uncertain significance by Ambry Genetics

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_006950.3(SYN1):c.1615G>A (p.Gly539Ser) rs794727076 0.00058
NM_006950.3(SYN1):c.319G>A (p.Gly107Ser) rs765045862 0.00012
NM_006950.3(SYN1):c.1372C>G (p.Gln458Glu) rs372445055 0.00011
NM_006950.3(SYN1):c.371C>T (p.Thr124Ile) rs1339768860 0.00004
NM_006950.3(SYN1):c.505C>T (p.Arg169Trp) rs762284940 0.00002
NM_006950.3(SYN1):c.1076C>A (p.Thr359Lys) rs765183335 0.00001
NM_006950.3(SYN1):c.1198G>A (p.Asp400Asn) rs772668988 0.00001
NM_006950.3(SYN1):c.1657T>C (p.Ser553Pro) rs1165799072 0.00001
NM_006950.3(SYN1):c.1967C>T (p.Pro656Leu) rs1391622247 0.00001
NM_006950.3(SYN1):c.112_126del (p.His38_Ala42del) rs2057941937
NM_006950.3(SYN1):c.1169C>A (p.Ser390Tyr) rs1569322942
NM_006950.3(SYN1):c.1321G>A (p.Ala441Thr) rs772106134
NM_006950.3(SYN1):c.1322C>A (p.Ala441Asp) rs1569322817
NM_006950.3(SYN1):c.1460C>T (p.Pro487Leu) rs2147912337
NM_006950.3(SYN1):c.1481C>T (p.Ser494Leu)
NM_006950.3(SYN1):c.169G>A (p.Val57Ile) rs1200321961
NM_006950.3(SYN1):c.1711G>A (p.Gly571Ser) rs1284009431
NM_006950.3(SYN1):c.1721C>T (p.Pro574Leu)
NM_006950.3(SYN1):c.1831C>T (p.Pro611Ser) rs1300239224
NM_006950.3(SYN1):c.187C>G (p.Pro63Ala)
NM_006950.3(SYN1):c.1970A>C (p.His657Pro) rs992542097
NM_006950.3(SYN1):c.402G>T (p.Lys134Asn)
NM_006950.3(SYN1):c.425A>T (p.Lys142Ile)
NM_006950.3(SYN1):c.485C>T (p.Ser162Phe)
NM_006950.3(SYN1):c.668G>C (p.Cys223Ser) rs796053398
NM_006950.3(SYN1):c.712A>G (p.Lys238Glu)

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