ClinVar Miner

List of variants studied for mucolipidosis type III, alpha/beta by Genome-Nilou Lab

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_024312.5(GNPTAB):c.3135+5T>C rs759935 0.60955
NM_024312.5(GNPTAB):c.3434+112C>G rs3736475 0.60946
NM_024312.5(GNPTAB):c.365+145C>T rs2108694 0.60798
NM_024312.5(GNPTAB):c.1932A>G (p.Thr644=) rs10778148 0.58708
NM_024312.5(GNPTAB):c.3336-25T>C rs3736476 0.30966
NM_024312.5(GNPTAB):c.117+215C>T rs7980363 0.26376
NM_024312.5(GNPTAB):c.204-103G>T rs11111024 0.12389
NM_024312.5(GNPTAB):c.18G>A (p.Leu6=) rs4764655 0.09551
NM_024312.5(GNPTAB):c.3602+8C>A rs79493678 0.02992
NM_024312.5(GNPTAB):c.204-15G>T rs10860787 0.01423
NM_032520.5(GNPTG):c.233+7G>T rs9926432 0.01285
NM_032520.5(GNPTG):c.255G>A (p.Pro85=) rs76594024 0.00606
NM_032520.5(GNPTG):c.910A>G (p.Ser304Gly) rs7187001 0.00332
NM_032520.5(GNPTG):c.741+5C>T rs201263537 0.00183
NM_032520.5(GNPTG):c.93G>C (p.Glu31Asp) rs8052503 0.00103
NM_032520.5(GNPTG):c.7G>A (p.Ala3Thr) rs914207699 0.00057
NM_032520.5(GNPTG):c.702T>C (p.Pro234=) rs532275192 0.00044
NM_032520.5(GNPTG):c.525A>C (p.Leu175=) rs144136497 0.00043
NM_032520.5(GNPTG):c.741+6G>A rs371060844 0.00043
NM_032520.5(GNPTG):c.857C>T (p.Thr286Met) rs193302860 0.00043
NM_032520.5(GNPTG):c.264C>T (p.Asn88=) rs145313679 0.00034
NM_032520.5(GNPTG):c.8C>T (p.Ala3Val) rs867217705 0.00026
NM_032520.5(GNPTG):c.67G>C (p.Gly23Arg) rs547624231 0.00022
NM_024312.5(GNPTAB):c.1433T>C (p.Ile478Thr) rs149718548 0.00021
NM_032520.5(GNPTG):c.837G>A (p.Leu279=) rs61739427 0.00013
NM_032520.5(GNPTG):c.510C>T (p.His170=) rs202240106 0.00011
NM_032520.5(GNPTG):c.557G>A (p.Arg186Gln) rs139997459 0.00010
NM_032520.5(GNPTG):c.887G>A (p.Arg296Gln) rs561640998 0.00010
NM_032520.5(GNPTG):c.713G>A (p.Gly238Glu) rs202080062 0.00009
NM_024312.5(GNPTAB):c.2304A>C (p.Lys768Asn) rs558911370 0.00008
NM_032520.5(GNPTG):c.238_243del (p.Lys80_Tyr81del) rs773452586 0.00008
NM_032520.5(GNPTG):c.489C>T (p.Phe163=) rs370857842 0.00008
NM_032520.5(GNPTG):c.758C>A (p.Ser253Ter) rs761299690 0.00008
NM_032520.5(GNPTG):c.394C>T (p.Arg132Trp) rs200741370 0.00007
NM_032520.5(GNPTG):c.548C>T (p.Ala183Val) rs759248626 0.00006
NM_032520.5(GNPTG):c.74C>A (p.Ala25Glu) rs137853826 0.00006
NM_032520.5(GNPTG):c.412-14C>T rs528538033 0.00004
NM_032520.5(GNPTG):c.234-8G>T rs369333639 0.00003
NM_032520.5(GNPTG):c.42C>T (p.Leu14=) rs776361173 0.00003
NM_032520.5(GNPTG):c.742-1G>T rs373976323 0.00003
NM_024312.5(GNPTAB):c.1661A>G (p.His554Arg) rs139066897 0.00002
NM_024312.5(GNPTAB):c.3525G>T (p.Met1175Ile) rs772131427 0.00001
NM_032520.5(GNPTG):c.196C>T (p.Arg66Ter) rs193302848 0.00001
NM_032520.5(GNPTG):c.233+1G>A rs376679416 0.00001
NM_032520.5(GNPTG):c.297C>T (p.Asn99=) rs201045559 0.00001
NM_024312.5(GNPTAB):c.-62GGC[7] rs76300806
NM_024312.5(GNPTAB):c.1252G>A (p.Asp418Asn) rs1953148000
NM_024312.5(GNPTAB):c.2660G>A (p.Ser887Asn) rs2137115941
NM_024312.5(GNPTAB):c.3460A>G (p.Ile1154Val) rs1393719423
NM_024312.5(GNPTAB):c.527C>G (p.Pro176Arg) rs142302101
NM_032520.4(GNPTG):c.499dup (p.Leu167Profs) rs756959430
NM_032520.5(GNPTG):c.11G>A (p.Gly4Glu) rs574801192
NM_032520.5(GNPTG):c.11G>C (p.Gly4Ala) rs574801192
NM_032520.5(GNPTG):c.234-1G>A rs112850896
NM_032520.5(GNPTG):c.29T>A (p.Leu10Ter) rs1555450681
NM_032520.5(GNPTG):c.318-1G>A rs193302847
NM_032520.5(GNPTG):c.479C>A (p.Ala160Glu) rs374470431
NM_032520.5(GNPTG):c.607dup (p.Gln203fs) rs756225251
NM_032520.5(GNPTG):c.6G>T (p.Ala2=) rs886051658
NM_032520.5(GNPTG):c.798C>T (p.His266=) rs375787769

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