ClinVar Miner

List of variants in gene KCNT1 reported as uncertain significance by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Total variants: 52
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HGVS dbSNP
NM_020822.3(KCNT1):c.1077_1078del (p.Gly361fs) rs796214553
NM_020822.3(KCNT1):c.1110G>A (p.Thr370=) rs140367649
NM_020822.3(KCNT1):c.1253G>A (p.Arg418Lys) rs886043301
NM_020822.3(KCNT1):c.1394C>T (p.Thr465Met) rs539139475
NM_020822.3(KCNT1):c.1511-5C>T rs546333402
NM_020822.3(KCNT1):c.1620-15_1620-5dup rs761464076
NM_020822.3(KCNT1):c.1717C>T (p.Arg573Cys) rs557219607
NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys) rs147306623
NM_020822.3(KCNT1):c.1899G>A (p.Ser633=) rs371135108
NM_020822.3(KCNT1):c.1927C>T (p.Arg643Trp) rs532620254
NM_020822.3(KCNT1):c.1995C>T (p.Ile665=) rs757811625
NM_020822.3(KCNT1):c.2008+10G>C rs752453368
NM_020822.3(KCNT1):c.2034C>T (p.Gly678=) rs369983077
NM_020822.3(KCNT1):c.2052G>A (p.Thr684=) rs376314779
NM_020822.3(KCNT1):c.2070C>T (p.Gly690=) rs370155559
NM_020822.3(KCNT1):c.2109G>T (p.Ser703=) rs767200583
NM_020822.3(KCNT1):c.2142G>A (p.Leu714=) rs370580872
NM_020822.3(KCNT1):c.2214G>A (p.Pro738=) rs142424896
NM_020822.3(KCNT1):c.2217G>A (p.Ser739=) rs143678590
NM_020822.3(KCNT1):c.254+10G>C rs772892562
NM_020822.3(KCNT1):c.2594+6G>A rs973179248
NM_020822.3(KCNT1):c.2605C>G (p.Leu869Val) rs1564382343
NM_020822.3(KCNT1):c.2641G>T (p.Val881Leu) rs1564382426
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_020822.3(KCNT1):c.285C>T (p.Asn95=) rs558966732
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_020822.3(KCNT1):c.2913C>T (p.Ser971=) rs1340916778
NM_020822.3(KCNT1):c.2949C>T (p.Phe983=) rs764574987
NM_020822.3(KCNT1):c.2957_2958insT (p.Tyr987fs) rs886042435
NM_020822.3(KCNT1):c.299G>A (p.Arg100Gln) rs752032951
NM_020822.3(KCNT1):c.3027+12T>C rs886043446
NM_020822.3(KCNT1):c.3050T>C (p.Leu1017Pro) rs1450164108
NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=) rs141695705
NM_020822.3(KCNT1):c.3096C>T (p.Ser1032=) rs1360446142
NM_020822.3(KCNT1):c.3153G>A (p.Ser1051=) rs141802876
NM_020822.3(KCNT1):c.3256G>A (p.Gly1086Arg) rs201156458
NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met) rs373041291
NM_020822.3(KCNT1):c.3537C>T (p.Tyr1179=) rs149927148
NM_020822.3(KCNT1):c.3575C>T (p.Pro1192Leu) rs147654995
NM_020822.3(KCNT1):c.408C>T (p.Leu136=) rs370046449
NM_020822.3(KCNT1):c.474G>A (p.Ser158=) rs139076605
NM_020822.3(KCNT1):c.522G>A (p.Met174Ile) rs147551342
NM_020822.3(KCNT1):c.675+4G>C rs794727929
NM_020822.3(KCNT1):c.776C>T (p.Ala259Val) rs776559951
NM_020822.3(KCNT1):c.867C>A (p.Ile289=) rs761045901
NM_020822.3(KCNT1):c.885G>A (p.Ala295=) rs142756900
NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys) rs146070496
NM_020822.3(KCNT1):c.928G>A (p.Val310Ile) rs149436191
NM_020822.3(KCNT1):c.942C>T (p.Thr314=) rs144766991
NM_020822.3(KCNT1):c.981G>A (p.Ser327=) rs373317695
NM_020822.3(KCNT1):c.99A>G (p.Gln33=) rs146152956
Single allele

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