ClinVar Miner

List of variants in gene CLN6 reported by Illumina Clinical Services Laboratory,Illumina

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Gene type:
ClinVar version:
Total variants: 81
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HGVS dbSNP
NM_017882.2(CLN6):c.*1157A>G rs8028241
NM_017882.2(CLN6):c.-178_-169delTCCGCTCCGC rs55672378
NM_017882.3(CLN6):c.*1015T>C rs6494720
NM_017882.3(CLN6):c.*1023G>A
NM_017882.3(CLN6):c.*1103G>A rs147362516
NM_017882.3(CLN6):c.*1109G>A
NM_017882.3(CLN6):c.*131G>T rs556392570
NM_017882.3(CLN6):c.*132C>T rs886051445
NM_017882.3(CLN6):c.*140_*143del rs754855292
NM_017882.3(CLN6):c.*141_*142GT[11] rs3837692
NM_017882.3(CLN6):c.*141_*142GT[12] rs3837692
NM_017882.3(CLN6):c.*141_*142GT[13] rs3837692
NM_017882.3(CLN6):c.*141_*142GT[8] rs3837692
NM_017882.3(CLN6):c.*175C>T rs886051444
NM_017882.3(CLN6):c.*179G>C rs886051443
NM_017882.3(CLN6):c.*224T>C rs886051442
NM_017882.3(CLN6):c.*246G>A rs886051441
NM_017882.3(CLN6):c.*264T>C rs886051440
NM_017882.3(CLN6):c.*284C>T
NM_017882.3(CLN6):c.*300C>T rs886051439
NM_017882.3(CLN6):c.*312C>T
NM_017882.3(CLN6):c.*345C>T
NM_017882.3(CLN6):c.*393G>A
NM_017882.3(CLN6):c.*42T>G
NM_017882.3(CLN6):c.*446C>T
NM_017882.3(CLN6):c.*470C>T rs565006193
NM_017882.3(CLN6):c.*481T>G
NM_017882.3(CLN6):c.*526A>G rs886051438
NM_017882.3(CLN6):c.*532T>A rs886051437
NM_017882.3(CLN6):c.*646C>G rs144976448
NM_017882.3(CLN6):c.*655C>T
NM_017882.3(CLN6):c.*667G>A rs111879561
NM_017882.3(CLN6):c.*690A>G rs8033190
NM_017882.3(CLN6):c.*69G>T rs761969677
NM_017882.3(CLN6):c.*725C>T rs369225795
NM_017882.3(CLN6):c.*749T>C
NM_017882.3(CLN6):c.*75G>C
NM_017882.3(CLN6):c.*817C>T rs8142
NM_017882.3(CLN6):c.*882C>T
NM_017882.3(CLN6):c.*887G>T rs886051436
NM_017882.3(CLN6):c.*88G>A rs886051446
NM_017882.3(CLN6):c.*934G>T rs114551417
NM_017882.3(CLN6):c.*991C>A
NM_017882.3(CLN6):c.-101A>G
NM_017882.3(CLN6):c.-108G>C rs865972073
NM_017882.3(CLN6):c.-22C>A rs886051448
NM_017882.3(CLN6):c.-38C>T
NM_017882.3(CLN6):c.-92C>T
NM_017882.3(CLN6):c.100G>A (p.Ala34Thr) rs146198681
NM_017882.3(CLN6):c.124C>T (p.Pro42Ser)
NM_017882.3(CLN6):c.213C>G (p.Leu71=) rs146980624
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) rs104894483
NM_017882.3(CLN6):c.255C>G (p.Phe85Leu) rs545955828
NM_017882.3(CLN6):c.259A>G (p.Met87Val) rs532180601
NM_017882.3(CLN6):c.282C>A (p.Pro94=) rs139261571
NM_017882.3(CLN6):c.298-15C>T rs368661456
NM_017882.3(CLN6):c.298-6C>T rs117038427
NM_017882.3(CLN6):c.316C>T (p.Arg106Cys) rs202226970
NM_017882.3(CLN6):c.339G>A (p.Thr113=) rs146135801
NM_017882.3(CLN6):c.349ATC[2] (p.Ile119del) rs886051447
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768
NM_017882.3(CLN6):c.41G>A (p.Gly14Asp) rs994590268
NM_017882.3(CLN6):c.42C>A (p.Gly14=) rs373776911
NM_017882.3(CLN6):c.469C>A (p.Leu157Ile)
NM_017882.3(CLN6):c.486+8C>T rs149692285
NM_017882.3(CLN6):c.487-12T>A rs571940397
NM_017882.3(CLN6):c.487-15C>T rs200775021
NM_017882.3(CLN6):c.487-3C>G
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser) rs763944821
NM_017882.3(CLN6):c.585C>T (p.Gly195=) rs144507672
NM_017882.3(CLN6):c.597C>G (p.Ala199=)
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly) rs3743088
NM_017882.3(CLN6):c.64G>T (p.Ala22Ser) rs527373013
NM_017882.3(CLN6):c.666-3C>T
NM_017882.3(CLN6):c.66C>T (p.Ala22=) rs796052349
NM_017882.3(CLN6):c.719C>T (p.Ala240Val)
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) rs151295143
NM_017882.3(CLN6):c.822G>A (p.Ala274=) rs151186473
NM_017882.3(CLN6):c.83+11G>A
NM_017882.3(CLN6):c.831C>T (p.Val277=) rs753344266
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698

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