ClinVar Miner

List of variants in gene combination KCNQ1, KCNQ1OT1 reported as uncertain significance for not provided

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1456G>A (p.Ala486Thr) rs753256800 0.00004
NM_000218.3(KCNQ1):c.1449C>A (p.Asn483Lys) rs1849966701 0.00001
NM_000218.3(KCNQ1):c.1464C>A (p.Asp488Glu) rs778041701 0.00001
GRCh37/hg19 11p15.5(chr11:2585399-2669895)x1
NM_000218.3(KCNQ1):c.1393+25398C>T
NM_000218.3(KCNQ1):c.1393+27282A>C
NM_000218.3(KCNQ1):c.1393+32806T>C
NM_000218.3(KCNQ1):c.1393+35891C>T
NM_000218.3(KCNQ1):c.1393+36529G>A
NM_000218.3(KCNQ1):c.1394-11948T>G
NM_000218.3(KCNQ1):c.1394-16460A>G
NM_000218.3(KCNQ1):c.1394-21154del
NM_000218.3(KCNQ1):c.1394-21161T>C
NM_000218.3(KCNQ1):c.1394-21617T>G
NM_000218.3(KCNQ1):c.1394-32417C>T
NM_000218.3(KCNQ1):c.1394-34554C>T
NM_000218.3(KCNQ1):c.1394-6C>T rs759714698
NM_000218.3(KCNQ1):c.1426A>G (p.Met476Val) rs794728529
NM_000218.3(KCNQ1):c.1437C>A (p.Phe479Leu) rs1849965957
NM_000218.3(KCNQ1):c.1487T>A (p.Leu496Gln) rs1849967991
NM_000218.3(KCNQ1):c.1514+1025C>T
NM_000218.3(KCNQ1):c.1514+10376G>A
NM_000218.3(KCNQ1):c.1514+17274C>T
NM_000218.3(KCNQ1):c.1514+18086C>T
NM_000218.3(KCNQ1):c.1514+25975C>A
NM_000218.3(KCNQ1):c.1514+30194A>G
NM_000218.3(KCNQ1):c.1514+33613G>A
NM_000218.3(KCNQ1):c.1514+35889C>T
NM_000218.3(KCNQ1):c.1514+37471_1514+37472delinsAA
NM_000218.3(KCNQ1):c.1514+4889G>C
NM_000218.3(KCNQ1):c.1514+6015A>G rs1850116256

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