ClinVar Miner

List of variants in gene KCNQ2 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 29
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HGVS dbSNP
NM_172107.3(KCNQ2):c.1088A>G (p.Tyr363Cys) rs794727935
NM_172107.3(KCNQ2):c.1149-3C>T rs1555860723
NM_172107.3(KCNQ2):c.1209C>T (p.Leu403=) rs752280961
NM_172107.3(KCNQ2):c.1259C>T (p.Pro420Leu) rs139164500
NM_172107.3(KCNQ2):c.1301+7C>T rs374877247
NM_172107.3(KCNQ2):c.1301+8G>T rs532111320
NM_172107.3(KCNQ2):c.1347C>T (p.Gly449=) rs771845478
NM_172107.3(KCNQ2):c.1503C>T (p.Ala501=) rs1801545
NM_172107.3(KCNQ2):c.1627G>A (p.Val543Met) rs794727134
NM_172107.3(KCNQ2):c.1814C>G (p.Thr605Ser) rs751334184
NM_172107.3(KCNQ2):c.1827C>T (p.Ala609=) rs369438374
NM_172107.3(KCNQ2):c.1842C>T (p.Pro614=) rs552807375
NM_172107.3(KCNQ2):c.1887+5G>A rs777916008
NM_172107.3(KCNQ2):c.1888-3C>T rs772971971
NM_172107.3(KCNQ2):c.1940G>A (p.Arg647Gln) rs765583552
NM_172107.3(KCNQ2):c.2052C>T (p.Gly684=) rs764444302
NM_172107.3(KCNQ2):c.2087C>T (p.Thr696Met) rs570139975
NM_172107.3(KCNQ2):c.2280C>T (p.Arg760=) rs753696924
NM_172107.3(KCNQ2):c.2358G>A (p.Thr786=) rs559610397
NM_172107.3(KCNQ2):c.2500A>G (p.Ile834Val) rs1555850289
NM_172107.3(KCNQ2):c.2553C>T (p.Pro851=)
NM_172107.3(KCNQ2):c.463C>T (p.Arg155Cys) rs886042698
NM_172107.3(KCNQ2):c.485A>G (p.Lys162Arg) rs754250122
NM_172107.3(KCNQ2):c.701C>T (p.Thr234Ile) rs794727741
NM_172107.3(KCNQ2):c.761A>G (p.Glu254Gly) rs794727739
NM_172107.3(KCNQ2):c.774C>T (p.Asn258=) rs770187706
NM_172107.3(KCNQ2):c.841G>A (p.Gly281Arg) rs794727813
NM_172107.3(KCNQ2):c.860C>T (p.Thr287Ile) rs727503973
NM_172107.3(KCNQ2):c.921G>A (p.Leu307=)

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