ClinVar Miner

List of variants in gene NECAP1 reported as uncertain significance for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_015509.4(NECAP1):c.251C>T (p.Thr84Met) rs137964265 0.00027
NM_015509.4(NECAP1):c.791A>G (p.Asn264Ser) rs145154841 0.00019
NM_015509.4(NECAP1):c.134G>C (p.Gly45Ala) rs973563199 0.00006
NM_015509.4(NECAP1):c.581A>G (p.Lys194Arg) rs765855460 0.00006
NM_015509.4(NECAP1):c.492+3G>A rs368777299 0.00004
NM_015509.4(NECAP1):c.569C>T (p.Pro190Leu) rs764080699 0.00004
NM_015509.4(NECAP1):c.136C>T (p.Arg46Cys) rs202044480 0.00003
NM_015509.4(NECAP1):c.161A>C (p.Lys54Thr) rs755337455 0.00003
NM_015509.4(NECAP1):c.436C>T (p.Arg146Cys) rs1016693316 0.00003
NM_015509.4(NECAP1):c.562C>A (p.Pro188Thr) rs775614356 0.00003
NM_015509.4(NECAP1):c.137G>A (p.Arg46His) rs751979807 0.00002
NM_015509.4(NECAP1):c.437G>A (p.Arg146His) rs769210779 0.00002
NM_015509.4(NECAP1):c.647C>T (p.Pro216Leu) rs748757462 0.00002
NM_015509.4(NECAP1):c.195A>G (p.Ser65=) rs770774824 0.00001
NM_015509.4(NECAP1):c.305G>A (p.Arg102His) rs766363501 0.00001
NM_015509.4(NECAP1):c.331A>G (p.Thr111Ala) rs754771825 0.00001
NM_015509.4(NECAP1):c.352G>A (p.Asp118Asn) rs755866954 0.00001
NM_015509.4(NECAP1):c.376C>T (p.His126Tyr) rs775899740 0.00001
NM_015509.4(NECAP1):c.430G>A (p.Asp144Asn) rs1219581866 0.00001
NM_015509.4(NECAP1):c.487A>G (p.Ile163Val) rs1477942819 0.00001
NM_015509.4(NECAP1):c.518C>T (p.Ala173Val) rs770195923 0.00001
NM_015509.4(NECAP1):c.595C>T (p.Pro199Ser) rs1340615210 0.00001
NM_015509.4(NECAP1):c.640C>T (p.Pro214Ser) rs3203835 0.00001
NM_015509.4(NECAP1):c.653C>A (p.Ser218Tyr) rs371472296 0.00001
NM_015509.4(NECAP1):c.713C>T (p.Thr238Met) rs763248083 0.00001
NM_015509.4(NECAP1):c.727A>G (p.Thr243Ala) rs752197558 0.00001
NM_015509.4(NECAP1):c.746A>G (p.Asn249Ser) rs776221234 0.00001
NM_015509.4(NECAP1):c.758G>A (p.Gly253Glu) rs765737930 0.00001
NM_015509.4(NECAP1):c.772G>A (p.Ala258Thr) rs898607958 0.00001
NM_015509.4(NECAP1):c.812A>G (p.Asn271Ser) rs763046716 0.00001
NC_000012.11:g.(?_8248177)_(8248319_?)del
NM_015509.4(NECAP1):c.100T>A (p.Ser34Thr) rs2120475831
NM_015509.4(NECAP1):c.131C>A (p.Thr44Asn) rs2120475973
NM_015509.4(NECAP1):c.178C>T (p.Leu60Phe) rs1947528448
NM_015509.4(NECAP1):c.214G>T (p.Ala72Ser) rs1947530992
NM_015509.4(NECAP1):c.217C>T (p.Pro73Ser) rs2120476836
NM_015509.4(NECAP1):c.236G>A (p.Gly79Asp)
NM_015509.4(NECAP1):c.241G>T (p.Ala81Ser)
NM_015509.4(NECAP1):c.244G>A (p.Val82Met) rs1947531325
NM_015509.4(NECAP1):c.268C>T (p.Arg90Cys) rs374365372
NM_015509.4(NECAP1):c.302-12C>G
NM_015509.4(NECAP1):c.337C>T (p.Arg113Trp)
NM_015509.4(NECAP1):c.338G>A (p.Arg113Gln)
NM_015509.4(NECAP1):c.346G>T (p.Ala116Ser) rs2120482566
NM_015509.4(NECAP1):c.383+3G>T rs1555169180
NM_015509.4(NECAP1):c.398A>G (p.Glu133Gly)
NM_015509.4(NECAP1):c.422A>G (p.Gln141Arg) rs2120485560
NM_015509.4(NECAP1):c.427A>G (p.Met143Val)
NM_015509.4(NECAP1):c.437G>T (p.Arg146Leu) rs769210779
NM_015509.4(NECAP1):c.442A>G (p.Lys148Glu) rs368565295
NM_015509.4(NECAP1):c.449A>G (p.Asp150Gly) rs2120485644
NM_015509.4(NECAP1):c.479A>C (p.Lys160Thr)
NM_015509.4(NECAP1):c.515G>A (p.Gly172Asp)
NM_015509.4(NECAP1):c.515G>T (p.Gly172Val)
NM_015509.4(NECAP1):c.539G>A (p.Arg180Lys) rs934424311
NM_015509.4(NECAP1):c.542G>C (p.Gly181Ala)
NM_015509.4(NECAP1):c.569C>G (p.Pro190Arg) rs764080699
NM_015509.4(NECAP1):c.581A>T (p.Lys194Ile) rs765855460
NM_015509.4(NECAP1):c.586A>C (p.Thr196Pro)
NM_015509.4(NECAP1):c.629T>C (p.Val210Ala) rs1205804172
NM_015509.4(NECAP1):c.653C>T (p.Ser218Phe) rs371472296
NM_015509.4(NECAP1):c.664G>A (p.Gly222Ser)
NM_015509.4(NECAP1):c.674C>G (p.Ala225Gly) rs2120487076
NM_015509.4(NECAP1):c.700C>T (p.Pro234Ser)
NM_015509.4(NECAP1):c.706C>T (p.Pro236Ser)
NM_015509.4(NECAP1):c.709G>A (p.Val237Ile)
NM_015509.4(NECAP1):c.715A>T (p.Thr239Ser) rs1555169422
NM_015509.4(NECAP1):c.734T>C (p.Val245Ala) rs2120495324
NM_015509.4(NECAP1):c.753G>T (p.Leu251Phe) rs1947587871
NM_015509.4(NECAP1):c.765C>T (p.Phe255=)
NM_015509.4(NECAP1):c.779G>A (p.Ser260Asn) rs2120495561
NM_015509.4(NECAP1):c.782C>G (p.Ser261Cys) rs1264229871
NM_015509.4(NECAP1):c.790A>G (p.Asn264Asp) rs2120496634
NM_015509.4(NECAP1):c.794A>T (p.Gln265Leu) rs1427000545
NM_015509.4(NECAP1):c.797C>T (p.Ala266Val) rs1020014973
NM_015509.4(NECAP1):c.818T>C (p.Val273Ala) rs2120496797
NM_015509.4(NECAP1):c.822G>C (p.Gln274His)

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