ClinVar Miner

Variants in gene KCNQ3 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 20
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HGVS dbSNP gnomAD frequency
NM_004519.4(KCNQ3):c.*3591T>C rs778136645 0.00130
NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser) rs118192254 0.00021
NM_004519.4(KCNQ3):c.1226C>G (p.Pro409Arg) rs149272208 0.00009
NM_004519.4(KCNQ3):c.2237C>T (p.Thr746Met) rs375833070 0.00009
NM_004519.4(KCNQ3):c.1935A>G (p.Gln645=) rs587781011 0.00008
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.2491C>T (p.Arg831Trp) rs185628977 0.00006
NM_004519.4(KCNQ3):c.2614A>G (p.Ile872Val) rs199682667 0.00006
NM_004519.4(KCNQ3):c.1995G>A (p.Ser665=) rs759776061 0.00005
NM_004519.4(KCNQ3):c.1564G>A (p.Val522Ile) rs143683496 0.00004
NM_004519.4(KCNQ3):c.2079G>A (p.Pro693=) rs145204452 0.00003
NM_004519.4(KCNQ3):c.1403A>G (p.Asn468Ser) rs118192252 0.00002
NM_004519.4(KCNQ3):c.1800-12G>A rs761923188 0.00001
NM_004519.4(KCNQ3):c.2146G>C (p.Asp716His) rs149324120 0.00001
NM_004519.4(KCNQ3):c.35C>T (p.Ala12Val) rs796052672 0.00001
NM_004519.4(KCNQ3):c.604+10G>T rs541587196 0.00001
NM_004519.4(KCNQ3):c.-141_-139dup rs879019805
NM_004519.4(KCNQ3):c.1809A>G (p.Pro603=) rs886062691
NM_004519.4(KCNQ3):c.1995G>T (p.Ser665=) rs759776061

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