ClinVar Miner

List of variants in gene KCNQ3 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_004519.4(KCNQ3):c.1885G>C (p.Val629Leu) rs185511111 0.00016
NM_004519.4(KCNQ3):c.2237C>T (p.Thr746Met) rs375833070 0.00009
NM_004519.4(KCNQ3):c.2144A>G (p.His715Arg) rs112314858 0.00007
NM_004519.4(KCNQ3):c.2338C>T (p.Arg780Cys) rs138852641 0.00007
NM_004519.4(KCNQ3):c.2614A>G (p.Ile872Val) rs199682667 0.00006
NM_004519.4(KCNQ3):c.1564G>A (p.Val522Ile) rs143683496 0.00004
NM_004519.4(KCNQ3):c.1178T>C (p.Ile393Thr) rs201814804 0.00003
NM_004519.4(KCNQ3):c.1709T>C (p.Met570Thr) rs199999939 0.00001
NM_004519.4(KCNQ3):c.1918G>A (p.Val640Met) rs767903815 0.00001
NM_004519.4(KCNQ3):c.1945C>T (p.Arg649Trp) rs770863845 0.00001
NM_004519.4(KCNQ3):c.2086C>A (p.Pro696Thr) rs1055327554 0.00001
NM_004519.4(KCNQ3):c.2123G>T (p.Ser708Ile) rs977989588 0.00001
NM_004519.4(KCNQ3):c.2146G>C (p.Asp716His) rs149324120 0.00001
NM_004519.4(KCNQ3):c.101C>A (p.Ala34Glu) rs1412895282
NM_004519.4(KCNQ3):c.1252G>A (p.Ala418Thr)
NM_004519.4(KCNQ3):c.1465+7C>G
NM_004519.4(KCNQ3):c.1921G>A (p.Asp641Asn)
NM_004519.4(KCNQ3):c.956A>G (p.Tyr319Cys) rs1554627218
NM_004519.4(KCNQ3):c.997G>C (p.Ala333Pro) rs1064797349

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