ClinVar Miner

List of variants reported as uncertain significance for Mucolipidosis type II by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_024312.5(GNPTAB):c.204-7G>A rs201226931 0.00087
NM_024312.5(GNPTAB):c.1986G>A (p.Ala662=) rs112000802 0.00074
NM_024312.5(GNPTAB):c.1826C>A (p.Thr609Asn) rs138811990 0.00054
NM_024312.5(GNPTAB):c.3114C>T (p.His1038=) rs148918729 0.00043
NM_024312.5(GNPTAB):c.3123G>A (p.Pro1041=) rs138655417 0.00041
NM_024312.5(GNPTAB):c.348G>A (p.Thr116=) rs145244231 0.00034
NM_024312.5(GNPTAB):c.2341G>A (p.Val781Met) rs183435240 0.00029
NM_024312.5(GNPTAB):c.1862A>G (p.Asn621Ser) rs146476305 0.00025
NM_024312.5(GNPTAB):c.1433T>C (p.Ile478Thr) rs149718548 0.00021
NM_024312.5(GNPTAB):c.2582G>A (p.Arg861Lys) rs139411012 0.00020
NM_024312.5(GNPTAB):c.3216A>G (p.Pro1072=) rs61935741 0.00019
NM_024312.5(GNPTAB):c.3710G>A (p.Arg1237Gln) rs150841760 0.00016
NM_024312.5(GNPTAB):c.1302T>G (p.Pro434=) rs113038721 0.00013
NM_024312.5(GNPTAB):c.2715C>T (p.Asp905=) rs374249911 0.00011
NM_024312.5(GNPTAB):c.3700G>A (p.Ala1234Thr) rs373314316 0.00010
NM_024312.5(GNPTAB):c.984A>G (p.Glu328=) rs376330291 0.00009
NM_024312.5(GNPTAB):c.1960A>G (p.Ser654Gly) rs151209875 0.00008
NM_024312.5(GNPTAB):c.2886C>T (p.Asp962=) rs368650569 0.00007
NM_024312.5(GNPTAB):c.1778A>T (p.Asn593Ile) rs188192351 0.00006
NM_024312.5(GNPTAB):c.1885A>G (p.Ile629Val) rs374265672 0.00006
NM_024312.5(GNPTAB):c.2118C>T (p.Asp706=) rs766863289 0.00006
NM_024312.5(GNPTAB):c.3336-6A>G rs371971179 0.00006
NM_024312.5(GNPTAB):c.337A>G (p.Lys113Glu) rs140656599 0.00006
NM_024312.5(GNPTAB):c.793A>G (p.Ser265Gly) rs779150416 0.00006
NM_024312.5(GNPTAB):c.933+7G>T rs757302795 0.00006
NM_024312.5(GNPTAB):c.2019A>G (p.Lys673=) rs551905649 0.00005
NM_024312.5(GNPTAB):c.3174A>G (p.Ser1058=) rs140872911 0.00005
NM_024312.5(GNPTAB):c.1848G>A (p.Thr616=) rs376352491 0.00004
NM_024312.5(GNPTAB):c.2862T>C (p.Pro954=) rs780618202 0.00004
NM_024312.5(GNPTAB):c.1030C>T (p.Arg344Trp) rs1480305030 0.00003
NM_024312.5(GNPTAB):c.1124G>A (p.Arg375Gln) rs745438711 0.00003
NM_024312.5(GNPTAB):c.1801A>G (p.Ile601Val) rs1406478775 0.00003
NM_024312.5(GNPTAB):c.216C>T (p.Pro72=) rs1465667194 0.00003
NM_024312.5(GNPTAB):c.3591G>A (p.Glu1197=) rs750709036 0.00003
NM_024312.5(GNPTAB):c.772T>C (p.Leu258=) rs1042427154 0.00003
NM_024312.5(GNPTAB):c.1669A>C (p.Ile557Leu) rs142025274 0.00002
NM_024312.5(GNPTAB):c.1929T>G (p.Ser643=) rs199921889 0.00002
NM_024312.5(GNPTAB):c.2164G>C (p.Asp722His) rs146460663 0.00002
NM_024312.5(GNPTAB):c.1185C>T (p.Ile395=) rs564430600 0.00001
NM_024312.5(GNPTAB):c.1570A>G (p.Asn524Asp) rs749452608 0.00001
NM_024312.5(GNPTAB):c.1875C>A (p.Phe625Leu) rs137853823 0.00001
NM_024312.5(GNPTAB):c.2119G>A (p.Ala707Thr) rs376620571 0.00001
NM_024312.5(GNPTAB):c.215C>T (p.Pro72Leu) rs755156585 0.00001
NM_024312.5(GNPTAB):c.2347G>A (p.Glu783Lys) rs765924360 0.00001
NM_024312.5(GNPTAB):c.2504C>T (p.Pro835Leu) rs550940255 0.00001
NM_024312.5(GNPTAB):c.2505C>T (p.Pro835=) rs775650744 0.00001
NM_024312.5(GNPTAB):c.2715+3A>G rs766588869 0.00001
NM_024312.5(GNPTAB):c.272A>G (p.Lys91Arg) rs752519391 0.00001
NM_024312.5(GNPTAB):c.3148C>A (p.Leu1050Met) rs1402805700 0.00001
NM_024312.5(GNPTAB):c.3182T>C (p.Leu1061Pro) rs143333669 0.00001
NM_024312.5(GNPTAB):c.3314A>G (p.Tyr1105Cys) rs775751653 0.00001
NM_024312.5(GNPTAB):c.3571C>T (p.Arg1191Cys) rs1481471124 0.00001
NM_024312.5(GNPTAB):c.42G>C (p.Leu14=) rs376257286 0.00001
NM_024312.5(GNPTAB):c.452T>G (p.Leu151Arg) rs200015550 0.00001
NM_024312.5(GNPTAB):c.578A>G (p.Asp193Gly) rs935456185 0.00001
NM_024312.5(GNPTAB):c.823A>G (p.Lys275Glu) rs781186859 0.00001
NM_024312.5(GNPTAB):c.872A>G (p.Asp291Gly) rs775153910 0.00001
NM_024312.5(GNPTAB):c.1027G>T (p.Val343Phe) rs140518816
NM_024312.5(GNPTAB):c.1110C>G (p.His370Gln) rs1953152857
NM_024312.5(GNPTAB):c.1114-14GTT[2] rs758859457
NM_024312.5(GNPTAB):c.150T>C (p.His50=) rs1441210167
NM_024312.5(GNPTAB):c.1655A>G (p.Gln552Arg) rs1953072471
NM_024312.5(GNPTAB):c.1960A>T (p.Ser654Cys) rs151209875
NM_024312.5(GNPTAB):c.2087C>T (p.Pro696Leu) rs1383772676
NM_024312.5(GNPTAB):c.2148G>C (p.Leu716Phe) rs374600127
NM_024312.5(GNPTAB):c.2499A>G (p.Glu833=) rs77410031
NM_024312.5(GNPTAB):c.2603A>T (p.Asn868Ile) rs920564230
NM_024312.5(GNPTAB):c.2618C>T (p.Thr873Ile) rs1953050858
NM_024312.5(GNPTAB):c.3026A>C (p.Asn1009Thr) rs1952987566
NM_024312.5(GNPTAB):c.3106A>G (p.Arg1036Gly) rs1952985795
NM_024312.5(GNPTAB):c.3198G>A (p.Thr1066=) rs1952969149
NM_024312.5(GNPTAB):c.3364G>T (p.Ala1122Ser) rs774443381
NM_024312.5(GNPTAB):c.3515A>T (p.Tyr1172Phe) rs149859473
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val) rs34946266
NM_024312.5(GNPTAB):c.654C>T (p.Val218=) rs764176988
NM_024312.5(GNPTAB):c.771+7A>C rs375495503
NM_024312.5(GNPTAB):c.979G>A (p.Glu327Lys) rs779983477

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