ClinVar Miner

List of variants reported as not provided for mucolipidosis type II by GeneReviews

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709 0.01289
NM_024312.5(GNPTAB):c.1123C>T (p.Arg375Ter) rs397507447 0.00009
NM_024312.5(GNPTAB):c.3335+6T>G rs34788341 0.00005
NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter) rs200646278 0.00001
NM_024312.5(GNPTAB):c.1120T>C (p.Phe374Leu) rs137852900 0.00001
NM_024312.5(GNPTAB):c.1402T>A (p.Cys468Ser) rs281864979 0.00001
NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter) rs281865009 0.00001
NM_024312.5(GNPTAB):c.3410T>A (p.Leu1137Ter) rs142065232 0.00001
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter) rs137852897 0.00001
NM_024312.5(GNPTAB):c.1001G>T (p.Arg334Leu) rs281864970
NM_024312.5(GNPTAB):c.1191_1194dup (p.Ser399fs) rs281864971
NM_024312.5(GNPTAB):c.1206dup (p.Ile403fs) rs281864972
NM_024312.5(GNPTAB):c.121del (p.Val41fs) rs281864948
NM_024312.5(GNPTAB):c.1331dup (p.Ser445fs) rs281864976
NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter) rs78347057
NM_024312.5(GNPTAB):c.1381T>G (p.Cys461Gly) rs281864977
NM_024312.5(GNPTAB):c.1399del (p.Asp467fs) rs397507448
NM_024312.5(GNPTAB):c.1519C>T (p.Gln507Ter) rs281864981
NM_024312.5(GNPTAB):c.163dup (p.Ser55fs) rs281864949
NM_024312.5(GNPTAB):c.171del (p.Asp58fs) rs281864951
NM_024312.5(GNPTAB):c.1759C>T (p.Arg587Ter) rs281864982
NM_024312.5(GNPTAB):c.1959_1962del (p.Ser654fs) rs281864983
NM_024312.5(GNPTAB):c.1965del (p.Pro655_Ile656insTer) rs281864984
NM_024312.5(GNPTAB):c.1999G>T (p.Glu667Ter) rs281864985
NM_024312.5(GNPTAB):c.1999_2000insT (p.Glu667fs) rs281864986
NM_024312.5(GNPTAB):c.2089dup (p.Leu697fs) rs281864987
NM_024312.5(GNPTAB):c.2189del (p.Leu730fs) rs281864988
NM_024312.5(GNPTAB):c.2196G>T (p.Lys732Asn) rs281864989
NM_024312.5(GNPTAB):c.2220_2221dup (p.Met741fs) rs281864990
NM_024312.5(GNPTAB):c.2249dup (p.Asn750fs) rs281864991
NM_024312.5(GNPTAB):c.2275_2276del (p.Thr758_Asn759insTer) rs281864992
NM_024312.5(GNPTAB):c.2422del (p.Leu808fs) rs281864993
NM_024312.5(GNPTAB):c.2427del (p.Leu810fs) rs281864994
NM_024312.5(GNPTAB):c.2544del (p.Glu849fs) rs281864995
NM_024312.5(GNPTAB):c.2550_2554del (p.Lys850fs) rs281864996
NM_024312.5(GNPTAB):c.2591_2592insG (p.Asn865fs) rs281864997
NM_024312.5(GNPTAB):c.2664C>G (p.Tyr888Ter) rs281864998
NM_024312.5(GNPTAB):c.2681G>A (p.Trp894Ter) rs137852899
NM_024312.5(GNPTAB):c.2693dup (p.Tyr899fs) rs281864999
NM_024312.5(GNPTAB):c.3002T>C (p.Leu1001Pro) rs281865006
NM_024312.5(GNPTAB):c.3053A>G (p.Asp1018Gly) rs281865007
NM_024312.5(GNPTAB):c.3061C>T (p.Gln1021Ter) rs281865008
NM_024312.5(GNPTAB):c.3160C>G (p.Leu1054Val) rs281865010
NM_024312.5(GNPTAB):c.3232del (p.Tyr1078fs) rs281865011
NM_024312.5(GNPTAB):c.3249+1G>C rs281865012
NM_024312.5(GNPTAB):c.3310del (p.Ala1104fs) rs281865013
NM_024312.5(GNPTAB):c.3330dup (p.Tyr1111fs) rs281865014
NM_024312.5(GNPTAB):c.3336-1G>C rs397507562
NM_024312.5(GNPTAB):c.3428dup (p.Asn1143fs) rs281865017
NM_024312.5(GNPTAB):c.344_345del (p.Thr115fs) rs281864954
NM_024312.5(GNPTAB):c.3487_3490del (p.Gln1162_Thr1163insTer) rs281865020
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) rs34002892
NM_024312.5(GNPTAB):c.3523_3529del (p.Met1175fs) rs281865021
NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter) rs35333334
NM_024312.5(GNPTAB):c.3741_3744del (p.Glu1248fs) rs281865022
NM_024312.5(GNPTAB):c.441del (p.Asn148fs) rs281864955
NM_024312.5(GNPTAB):c.625_629del (p.Arg209fs) rs281864961
NM_024312.5(GNPTAB):c.637-1G>A rs281864962
NM_024312.5(GNPTAB):c.648_651del (p.Glu217fs) rs281864963
NM_024312.5(GNPTAB):c.749dup (p.Asn250fs) rs281864964
NM_024312.5(GNPTAB):c.755_759del (p.Leu251_Ser252insTer) rs281864965
NM_024312.5(GNPTAB):c.857dup (p.Asn287fs) rs281864966
NM_024312.5(GNPTAB):c.914dup (p.Asp305fs) rs281864967
NM_024312.5(GNPTAB):c.940C>T (p.Gln314Ter) rs281864968

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