ClinVar Miner

List of variants in gene SYNJ1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_203446.3(SYNJ1):c.3638G>A (p.Arg1213Gln) rs144048853 0.00013
NM_203446.3(SYNJ1):c.1555A>G (p.Ser519Gly) rs148901211 0.00009
NM_203446.3(SYNJ1):c.20T>A (p.Phe7Tyr) rs748690832 0.00003
NM_203446.3(SYNJ1):c.*278T>G rs61750218 0.00002
NM_203446.3(SYNJ1):c.2264T>C (p.Ile755Thr) rs766613161 0.00002
NM_203446.3(SYNJ1):c.1593G>C (p.Lys531Asn) rs1242268350 0.00001
NM_203446.3(SYNJ1):c.2505C>A (p.Ser835Arg) rs748032685 0.00001
NM_203446.3(SYNJ1):c.3551C>T (p.Ala1184Val) rs748917955 0.00001
NM_203446.3(SYNJ1):c.3692C>T (p.Ser1231Leu) rs1052497631 0.00001
NM_203446.3(SYNJ1):c.*188T>C rs866258846
NM_203446.3(SYNJ1):c.*84dup rs2145660046
NM_203446.3(SYNJ1):c.1255A>C (p.Thr419Pro) rs1601403593
NM_203446.3(SYNJ1):c.1277G>A (p.Arg426Gln) rs1601403500
NM_203446.3(SYNJ1):c.2038A>G (p.Thr680Ala) rs752329752
NM_203446.3(SYNJ1):c.352G>C (p.Glu118Gln) rs2146213073
NM_203446.3(SYNJ1):c.377G>C (p.Gly126Ala) rs1569111034
NM_203446.3(SYNJ1):c.851G>A (p.Arg284Lys) rs565013600

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