ClinVar Miner

List of variants in gene KCNQ1 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 19
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NM_000218.2(KCNQ1):c.-5T>C rs532941548
NM_000218.2(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457
NM_000218.2(KCNQ1):c.1201C>T (p.Arg401Trp) rs766616232
NM_000218.2(KCNQ1):c.1252-3del rs12720450
NM_000218.2(KCNQ1):c.1256A>C (p.Lys419Thr) rs757328965
NM_000218.2(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.2(KCNQ1):c.1556G>A (p.Arg519His) rs199472788
NM_000218.2(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000218.2(KCNQ1):c.1637C>T (p.Ser546Leu) rs199473480
NM_000218.2(KCNQ1):c.1685+9G>A rs545535640
NM_000218.2(KCNQ1):c.1875C>T (p.Pro625=) rs112113213
NM_000218.2(KCNQ1):c.190C>T (p.Pro64Ser) rs1554958062
NM_000218.2(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172
NM_000218.2(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427
NM_000218.2(KCNQ1):c.386+14C>T rs370023636
NM_000218.2(KCNQ1):c.447C>T (p.Ala149=) rs146436765
NM_000218.2(KCNQ1):c.759C>T (p.Ser253=) rs752457145
NM_000218.2(KCNQ1):c.879C>A (p.Arg293=) rs181106858

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