List of variants reported as likely pathogenic for mucolipidosis type II by Counsyl

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Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_024312.5(GNPTAB):c.2715+2T>G	rs281865001	0.00002
NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter)	rs281864969	0.00001
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln)	rs34159654	0.00001
NM_024312.5(GNPTAB):c.1017_1020dup (p.Pro341fs)	rs748809942
NM_024312.5(GNPTAB):c.1032del (p.Asn345fs)	rs1555270321
NM_024312.5(GNPTAB):c.1389_1390del (p.Trp463_Asp464delinsTer)	rs1555270066
NM_024312.5(GNPTAB):c.1906dup (p.Arg636fs)	rs747789493
NM_024312.5(GNPTAB):c.204-1G>C	rs748389002
NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs)	rs34901902
NM_024312.5(GNPTAB):c.2275_2276del (p.Thr758_Asn759insTer)	rs281864992
NM_024312.5(GNPTAB):c.2550_2554del (p.Lys850fs)	rs281864996
NM_024312.5(GNPTAB):c.2617dup (p.Thr873fs)	rs752874974
NM_024312.5(GNPTAB):c.2693del (p.Lys898fs)	rs281864999
NM_024312.5(GNPTAB):c.3250-2A>G	rs875989952
NM_024312.5(GNPTAB):c.3603G>A (p.Trp1201Ter)	rs1555267839
NM_024312.5(GNPTAB):c.366-2A>G	rs1555271868
NM_024312.5(GNPTAB):c.39C>A (p.Cys13Ter)	rs1555277081
NM_024312.5(GNPTAB):c.441del (p.Asn148fs)	rs281864955
NM_024312.5(GNPTAB):c.648_651del (p.Glu217fs)	rs281864963
NM_024312.5(GNPTAB):c.771+1G>C	rs1555271217
NM_024312.5(GNPTAB):c.771+2T>A	rs1555271215
NM_024312.5(GNPTAB):c.804del (p.Leu268_Leu269insTer)	rs1555270428
NM_024312.5(GNPTAB):c.933+1G>T	rs1327876395

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