ClinVar Miner

List of variants reported as pathogenic for Chediak-Higashi syndrome by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_000081.4(LYST):c.1507C>T (p.Arg503Ter) rs1558282769 0.00001
NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter) rs80338652 0.00001
NC_000001.10:g.(?_235826240)_(235976381_?)del
NC_000001.10:g.(?_235827745)_(235827941_?)del
NC_000001.11:g.(?_235662920)_(235782107_?)del
NM_000081.4(LYST):c.10027C>T (p.Gln3343Ter)
NM_000081.4(LYST):c.10062_10063del (p.Ile3354fs)
NM_000081.4(LYST):c.10083del (p.Phe3362fs)
NM_000081.4(LYST):c.10153G>T (p.Gly3385Ter)
NM_000081.4(LYST):c.10206del (p.Thr3402_Met3403insTer)
NM_000081.4(LYST):c.10345C>T (p.Arg3449Ter) rs754616030
NM_000081.4(LYST):c.10360G>T (p.Glu3454Ter)
NM_000081.4(LYST):c.10568_10569del (p.Val3523fs)
NM_000081.4(LYST):c.10601C>A (p.Ser3534Ter)
NM_000081.4(LYST):c.10654del (p.Gln3552fs)
NM_000081.4(LYST):c.106G>T (p.Glu36Ter)
NM_000081.4(LYST):c.1082_1083insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCTCTAGAGCAGCTTT (p.Leu361delinsPhePhePhePhePhePhePheXaaXaaXaaXaaValPheCysValAlaHisAlaGlySerCysArgProGluLeuPheLeuPheGlyHisLeuGlySerSerLeuTer)
NM_000081.4(LYST):c.11002G>T (p.Glu3668Ter)
NM_000081.4(LYST):c.1189A>T (p.Arg397Ter)
NM_000081.4(LYST):c.1202T>G (p.Leu401Ter)
NM_000081.4(LYST):c.130C>T (p.Gln44Ter)
NM_000081.4(LYST):c.1361G>A (p.Trp454Ter)
NM_000081.4(LYST):c.1391del (p.Glu464fs)
NM_000081.4(LYST):c.1406T>A (p.Leu469Ter)
NM_000081.4(LYST):c.1467del (p.Glu489fs) rs80338644
NM_000081.4(LYST):c.1492A>T (p.Arg498Ter)
NM_000081.4(LYST):c.1540C>T (p.Arg514Ter) rs80338645
NM_000081.4(LYST):c.1592dup (p.Asn531fs)
NM_000081.4(LYST):c.1599dup (p.Glu534Ter)
NM_000081.4(LYST):c.1758_1761dup (p.Pro588fs)
NM_000081.4(LYST):c.1897A>T (p.Lys633Ter)
NM_000081.4(LYST):c.1902dup (p.Ala635fs) rs80338646
NM_000081.4(LYST):c.192+1G>A
NM_000081.4(LYST):c.192+2T>C
NM_000081.4(LYST):c.2015dup (p.Tyr672Ter)
NM_000081.4(LYST):c.2016C>A (p.Tyr672Ter)
NM_000081.4(LYST):c.2158C>T (p.Gln720Ter)
NM_000081.4(LYST):c.236_237del (p.Leu79fs)
NM_000081.4(LYST):c.2413G>T (p.Glu805Ter)
NM_000081.4(LYST):c.2413del (p.Glu805fs) rs80338647
NM_000081.4(LYST):c.2437C>T (p.Arg813Ter)
NM_000081.4(LYST):c.244dup (p.Leu82fs)
NM_000081.4(LYST):c.2540del (p.Lys847fs)
NM_000081.4(LYST):c.2730_2734del (p.Ser910fs)
NM_000081.4(LYST):c.2832del (p.Ser945fs)
NM_000081.4(LYST):c.2962C>T (p.Arg988Ter)
NM_000081.4(LYST):c.3085C>T (p.Gln1029Ter) rs80338651
NM_000081.4(LYST):c.3301_3302insCAGGATTTAAACAGAATTTCTCAACCTAAGAGAACTATGAAGGAAGATTTATTATCTTTGGCTATAA (p.Gln1101delinsProGlyPheLysGlnAsnPheSerThrTer)
NM_000081.4(LYST):c.3433del (p.His1145fs)
NM_000081.4(LYST):c.3574G>T (p.Glu1192Ter)
NM_000081.4(LYST):c.3601del (p.Ser1201fs)
NM_000081.4(LYST):c.3736_3737del (p.Glu1246fs)
NM_000081.4(LYST):c.3770T>A (p.Leu1257Ter)
NM_000081.4(LYST):c.3817_3821dup (p.Glu1275fs)
NM_000081.4(LYST):c.3910del (p.Glu1304fs)
NM_000081.4(LYST):c.3996del (p.Asp1333fs)
NM_000081.4(LYST):c.4264del (p.Ala1422fs)
NM_000081.4(LYST):c.4288C>T (p.Arg1430Ter) rs1468055437
NM_000081.4(LYST):c.4322_4325del (p.Glu1441fs)
NM_000081.4(LYST):c.433C>T (p.Arg145Ter)
NM_000081.4(LYST):c.4434G>A (p.Trp1478Ter)
NM_000081.4(LYST):c.4469del (p.Thr1490fs)
NM_000081.4(LYST):c.4479del (p.Gly1494fs)
NM_000081.4(LYST):c.4498_4502del (p.Arg1500fs)
NM_000081.4(LYST):c.4900A>T (p.Lys1634Ter)
NM_000081.4(LYST):c.4978C>T (p.Gln1660Ter)
NM_000081.4(LYST):c.5351_5352insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGAGCATCTT (p.Leu1784delinsPhePhePhePhePhePhePheXaaXaaXaaXaaSerTer)
NM_000081.4(LYST):c.5491C>T (p.Gln1831Ter)
NM_000081.4(LYST):c.5506C>T (p.Arg1836Ter)
NM_000081.4(LYST):c.5519C>G (p.Ser1840Ter)
NM_000081.4(LYST):c.575del (p.Phe191_Leu192insTer)
NM_000081.4(LYST):c.575dup (p.Leu192fs)
NM_000081.4(LYST):c.5785C>T (p.Gln1929Ter)
NM_000081.4(LYST):c.5881C>T (p.Gln1961Ter)
NM_000081.4(LYST):c.5956C>T (p.Arg1986Ter)
NM_000081.4(LYST):c.6077dup (p.Tyr2026Ter)
NM_000081.4(LYST):c.6078C>G (p.Tyr2026Ter)
NM_000081.4(LYST):c.6187del (p.Arg2063fs)
NM_000081.4(LYST):c.6283C>T (p.Gln2095Ter)
NM_000081.4(LYST):c.6397C>T (p.Gln2133Ter)
NM_000081.4(LYST):c.6676C>T (p.Arg2226Ter)
NM_000081.4(LYST):c.6862C>T (p.Arg2288Ter)
NM_000081.4(LYST):c.7135dup (p.Leu2379fs)
NM_000081.4(LYST):c.713_714insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGGGCGCGGACGGGGAGCCGGGCCCGGAGCCGCCGTCACGGCCGCGACCGCCCCGCGGGGCCGGCCTGGGCCGCGCTCAAACACTGACATTTT (p.Ile237_Leu238insPhePhePhePhePhePhePheXaaXaaXaaXaaGlyArgGlyArgGlyAlaGlyProGlyAlaAlaValThrAlaAlaThrAlaProArgGlyArgProGlyProArgSerAsnThrAspIle)
NM_000081.4(LYST):c.7168C>T (p.Gln2390Ter)
NM_000081.4(LYST):c.7499del (p.Ile2500fs)
NM_000081.4(LYST):c.7786C>T (p.Arg2596Ter)
NM_000081.4(LYST):c.8080C>T (p.Gln2694Ter)
NM_000081.4(LYST):c.8122dup (p.Tyr2708fs)
NM_000081.4(LYST):c.8373_8376del (p.Leu2791fs)
NM_000081.4(LYST):c.8425dup (p.Glu2809fs)
NM_000081.4(LYST):c.8536-1G>A
NM_000081.4(LYST):c.8668_8669dup (p.Thr2891fs)
NM_000081.4(LYST):c.8691_8692del (p.Gln2898fs)
NM_000081.4(LYST):c.8760del (p.Ser2920fs)
NM_000081.4(LYST):c.8869C>T (p.Arg2957Ter)
NM_000081.4(LYST):c.9143del (p.Ser3048fs)
NM_000081.4(LYST):c.9219_9222del (p.Glu3074fs)
NM_000081.4(LYST):c.9239G>A (p.Trp3080Ter)
NM_000081.4(LYST):c.9245dup (p.Leu3082fs)
NM_000081.4(LYST):c.925C>T (p.Arg309Ter)
NM_000081.4(LYST):c.934del (p.Ser312fs)
NM_000081.4(LYST):c.9377_9389del (p.Gly3126fs)
NM_000081.4(LYST):c.9434_9435dup (p.Leu3146fs)
NM_000081.4(LYST):c.9449del (p.Asn3150fs)
NM_000081.4(LYST):c.9463C>T (p.Arg3155Ter)
NM_000081.4(LYST):c.9600del (p.Glu3201fs)
NM_000081.4(LYST):c.9612T>G (p.Tyr3204Ter)
NM_000081.4(LYST):c.973dup (p.Arg325fs)
NM_000081.4(LYST):c.9838C>T (p.Arg3280Ter)
NM_000081.4(LYST):c.985C>T (p.Arg329Ter)
NM_000081.4(LYST):c.9874G>T (p.Glu3292Ter)
NM_000081.4(LYST):c.9893del (p.Phe3298fs) rs80338668
NM_000081.4(LYST):c.9961dup (p.Val3321fs)
NM_000081.4(LYST):c.9988del (p.Ala3330fs)

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