ClinVar Miner

List of variants in gene KCNC3 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_004977.3(KCNC3):c.2171-8A>C rs775357041 0.00637
NM_004977.3(KCNC3):c.1771A>G (p.Ser591Gly) rs549394447 0.00331
NM_004977.3(KCNC3):c.1404C>T (p.Tyr468=) rs35578310 0.00287
NM_004977.3(KCNC3):c.1215C>T (p.Ala405=) rs116590290 0.00109
NM_004977.3(KCNC3):c.315G>C (p.Thr105=) rs368049323 0.00104
NM_004977.3(KCNC3):c.1875G>T (p.Arg625Ser) rs537912602 0.00064
NM_004977.3(KCNC3):c.579C>G (p.Arg193=) rs138237939 0.00024
NM_004977.3(KCNC3):c.1429G>A (p.Asp477Asn) rs148033381 0.00019
NM_004977.3(KCNC3):c.1338C>T (p.Asn446=) rs140640214 0.00005
NM_004977.3(KCNC3):c.2244C>T (p.Asn748=) rs1027819501 0.00003
NM_004977.3(KCNC3):c.*1205C>A
NM_004977.3(KCNC3):c.1596C>T (p.Ala532=)
NM_004977.3(KCNC3):c.1737A>C (p.Pro579=)
NM_004977.3(KCNC3):c.1743G>C (p.Pro581=)
NM_004977.3(KCNC3):c.1746A>C (p.Pro582=)
NM_004977.3(KCNC3):c.1761G>C (p.Pro587=)
NM_004977.3(KCNC3):c.1812C>T (p.Ser604=)
NM_004977.3(KCNC3):c.390G>C (p.Pro130=)
NM_004977.3(KCNC3):c.633CAACGCCGC[1] (p.212NAA[1]) rs757605455
NM_004977.3(KCNC3):c.687C>T (p.Gly229=)
NM_004977.3(KCNC3):c.693C>A (p.Gly231=)
NM_004977.3(KCNC3):c.981C>T (p.Ser327=)

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