ClinVar Miner

List of variants reported as likely benign for Jervell and Lange-Nielsen syndrome 1 by Illumina Clinical Services Laboratory,Illumina

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Total variants: 17
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HGVS dbSNP
NM_000218.3(KCNQ1):c.*632C>T
NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) rs1805118
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457
NM_000218.3(KCNQ1):c.1222C>G (p.Pro408Ala) rs28730756
NM_000218.3(KCNQ1):c.1794+11G>A rs186188610
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172
NM_000218.3(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000218.3(KCNQ1):c.435C>T (p.Ile145=) rs1800170
NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=) rs139042529
NM_000218.3(KCNQ1):c.567G>T (p.Gly189=) rs200669271
NM_000218.3(KCNQ1):c.720C>T (p.His240=) rs28730754
NM_181798.1(KCNQ1):c.*464G>A rs141960532
NM_181798.1(KCNQ1):c.*731G>A rs146324627
NM_181798.1(KCNQ1):c.*806C>T rs539398869
NM_181798.1(KCNQ1):c.*975C>T rs74048340
NM_181798.1(KCNQ1):c.1494C>T (p.Pro498=) rs112113213
NM_181798.1(KCNQ1):c.591C>T (p.Val197=) rs554518844

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