ClinVar Miner

List of variants reported as uncertain significance for Chediak-Higashi syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 137
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HGVS dbSNP
NM_000081.3(LYST):c.*1211G>A
NM_000081.3(LYST):c.*1275T>C
NM_000081.3(LYST):c.*1295T>C
NM_000081.3(LYST):c.*1356G>T
NM_000081.3(LYST):c.*1379G>C
NM_000081.3(LYST):c.*1428T>G
NM_000081.3(LYST):c.*1438C>T
NM_000081.3(LYST):c.*1792A>G
NM_000081.3(LYST):c.*1831A>C
NM_000081.3(LYST):c.*1861C>A
NM_000081.3(LYST):c.*191T>C
NM_000081.3(LYST):c.*247G>T
NM_000081.3(LYST):c.*329A>G
NM_000081.3(LYST):c.*519C>T
NM_000081.3(LYST):c.*5G>A
NM_000081.3(LYST):c.*694T>C
NM_000081.3(LYST):c.*725G>A
NM_000081.3(LYST):c.*824A>G
NM_000081.3(LYST):c.*831A>G
NM_000081.3(LYST):c.*873G>C
NM_000081.3(LYST):c.*891G>C
NM_000081.3(LYST):c.*907G>A
NM_000081.3(LYST):c.*94A>G
NM_000081.3(LYST):c.-131G>C
NM_000081.3(LYST):c.-134G>A
NM_000081.3(LYST):c.-139G>A
NM_000081.3(LYST):c.-140G>C
NM_000081.3(LYST):c.-142C>T
NM_000081.3(LYST):c.-5C>T rs141317482
NM_000081.3(LYST):c.-7-14T>C
NM_000081.3(LYST):c.-97-9T>G
NM_000081.3(LYST):c.10091A>G (p.Tyr3364Cys)
NM_000081.3(LYST):c.10341G>A (p.Glu3447=)
NM_000081.3(LYST):c.10414T>C (p.Tyr3472His)
NM_000081.3(LYST):c.10477T>C (p.Phe3493Leu)
NM_000081.3(LYST):c.10526G>A (p.Arg3509Gln)
NM_000081.3(LYST):c.10657A>G (p.Ser3553Gly)
NM_000081.3(LYST):c.10707T>C (p.Thr3569=)
NM_000081.3(LYST):c.10733G>T (p.Cys3578Phe)
NM_000081.3(LYST):c.10800+4G>T rs41308172
NM_000081.3(LYST):c.10838A>G (p.Tyr3613Cys)
NM_000081.3(LYST):c.10941-7C>A rs72761794
NM_000081.3(LYST):c.11076C>T (p.Asn3692=)
NM_000081.3(LYST):c.110C>T (p.Thr37Met)
NM_000081.3(LYST):c.11122G>A (p.Val3708Met)
NM_000081.3(LYST):c.11167G>A (p.Ala3723Thr)
NM_000081.3(LYST):c.11196-15T>G
NM_000081.3(LYST):c.1275C>G (p.Tyr425Ter)
NM_000081.3(LYST):c.1478A>G (p.His493Arg)
NM_000081.3(LYST):c.1494A>G (p.Arg498=)
NM_000081.3(LYST):c.1655T>C (p.Val552Ala)
NM_000081.3(LYST):c.1722A>G (p.Leu574=)
NM_000081.3(LYST):c.1725G>A (p.Ser575=)
NM_000081.3(LYST):c.196T>C (p.Leu66=)
NM_000081.3(LYST):c.1996A>G (p.Ser666Gly)
NM_000081.3(LYST):c.2009_2011CTT[1] (p.Ser671del)
NM_000081.3(LYST):c.2258G>A (p.Ser753Asn)
NM_000081.3(LYST):c.2313G>A (p.Gln771=)
NM_000081.3(LYST):c.244C>T (p.Leu82=)
NM_000081.3(LYST):c.2517T>C (p.Ile839=)
NM_000081.3(LYST):c.2630G>C (p.Gly877Ala)
NM_000081.3(LYST):c.2687A>G (p.Asn896Ser)
NM_000081.3(LYST):c.2700A>G (p.Leu900=)
NM_000081.3(LYST):c.2724C>T (p.Cys908=)
NM_000081.3(LYST):c.2725G>A (p.Val909Ile)
NM_000081.3(LYST):c.2769A>C (p.Ser923=) rs112739986
NM_000081.3(LYST):c.2806C>A (p.Pro936Thr)
NM_000081.3(LYST):c.280A>G (p.Thr94Ala)
NM_000081.3(LYST):c.281C>T (p.Thr94Ile) rs777389303
NM_000081.3(LYST):c.2870T>C (p.Met957Thr)
NM_000081.3(LYST):c.2908A>C (p.Ile970Leu)
NM_000081.3(LYST):c.2945A>G (p.Tyr982Cys)
NM_000081.3(LYST):c.2946T>C (p.Tyr982=)
NM_000081.3(LYST):c.3030A>G (p.Gly1010=)
NM_000081.3(LYST):c.3083C>G (p.Ser1028Cys) rs150636017
NM_000081.3(LYST):c.3160A>G (p.Ser1054Gly)
NM_000081.3(LYST):c.3167A>C (p.Lys1056Thr)
NM_000081.3(LYST):c.3278G>A (p.Ser1093Asn)
NM_000081.3(LYST):c.3394-14T>C rs372892911
NM_000081.3(LYST):c.3616G>C (p.Asp1206His)
NM_000081.3(LYST):c.368A>G (p.His123Arg)
NM_000081.3(LYST):c.3697G>A (p.Glu1233Lys)
NM_000081.3(LYST):c.3712+12T>C
NM_000081.3(LYST):c.3757A>C (p.Ser1253Arg)
NM_000081.3(LYST):c.3834G>A (p.Leu1278=)
NM_000081.3(LYST):c.3898A>G (p.Ile1300Val)
NM_000081.3(LYST):c.3931A>G (p.Met1311Val)
NM_000081.3(LYST):c.4337G>A (p.Arg1446Gln)
NM_000081.3(LYST):c.4566A>C (p.Ala1522=)
NM_000081.3(LYST):c.5071C>T (p.Pro1691Ser)
NM_000081.3(LYST):c.5634+11A>G
NM_000081.3(LYST):c.5635-4A>G
NM_000081.3(LYST):c.5676G>A (p.Met1892Ile)
NM_000081.3(LYST):c.6079G>C (p.Val2027Leu)
NM_000081.3(LYST):c.6188G>A (p.Arg2063Lys)
NM_000081.3(LYST):c.6291C>T (p.Ala2097=)
NM_000081.3(LYST):c.6292G>A (p.Ala2098Thr)
NM_000081.3(LYST):c.643C>T (p.Pro215Ser)
NM_000081.3(LYST):c.6454A>C (p.Ser2152Arg)
NM_000081.3(LYST):c.6482A>C (p.Glu2161Ala) rs147756847
NM_000081.3(LYST):c.6673C>T (p.Arg2225Cys)
NM_000081.3(LYST):c.6710A>C (p.Gln2237Pro) rs138443479
NM_000081.3(LYST):c.6744A>G (p.Leu2248=)
NM_000081.3(LYST):c.6772G>C (p.Ala2258Pro)
NM_000081.3(LYST):c.6812A>G (p.Asp2271Gly) rs112601869
NM_000081.3(LYST):c.7059+7G>A rs111764031
NM_000081.3(LYST):c.7368T>C (p.Asn2456=) rs199631995
NM_000081.3(LYST):c.7385C>A (p.Ala2462Glu)
NM_000081.3(LYST):c.7430C>T (p.Thr2477Ile)
NM_000081.3(LYST):c.7506A>C (p.Gln2502His)
NM_000081.3(LYST):c.7506A>G (p.Gln2502=) rs140434436
NM_000081.3(LYST):c.7806A>G (p.Gln2602=)
NM_000081.3(LYST):c.7836A>G (p.Ser2612=)
NM_000081.3(LYST):c.8214G>C (p.Glu2738Asp)
NM_000081.3(LYST):c.8222G>A (p.Arg2741Gln)
NM_000081.3(LYST):c.8258C>T (p.Ser2753Leu)
NM_000081.3(LYST):c.8368A>C (p.Lys2790Gln)
NM_000081.3(LYST):c.8395A>G (p.Ile2799Val)
NM_000081.3(LYST):c.8535+7C>T
NM_000081.3(LYST):c.8537A>C (p.Glu2846Ala)
NM_000081.3(LYST):c.8742A>G (p.Lys2914=)
NM_000081.3(LYST):c.8801+15G>C
NM_000081.3(LYST):c.8818C>A (p.Pro2940Thr)
NM_000081.3(LYST):c.8960C>G (p.Pro2987Arg)
NM_000081.3(LYST):c.9162+11G>A
NM_000081.3(LYST):c.916T>G (p.Leu306Val)
NM_000081.3(LYST):c.9332A>G (p.Tyr3111Cys)
NM_000081.3(LYST):c.9520G>A (p.Val3174Ile) rs199672291
NM_000081.3(LYST):c.9542A>G (p.Asn3181Ser)
NM_000081.3(LYST):c.9742G>A (p.Val3248Ile)
NM_000081.3(LYST):c.9969C>T (p.His3323=)
NM_000081.3(LYST):c.9C>T (p.Thr3=) rs33998267
NM_001301365.1(LYST):c.-97-13dup
NM_001301365.1(LYST):c.11268-17dup
NM_001301365.1(LYST):c.2363+10dup
NM_001301365.1(LYST):c.4705A>C (p.Asn1569His)
NM_001301365.1(LYST):c.9045-13T>C

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