List of variants in gene POMT2 reported as benign for congenital muscular dystrophy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 45

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HGVS	dbSNP	gnomAD frequency
NM_013382.7(POMT2):c.*1742G>A	rs12894594	0.83615
NM_013382.7(POMT2):c.*1501G>A	rs4141640	0.83310
NM_013382.7(POMT2):c.1383G>A (p.Arg461=)	rs2270419	0.82874
NM_013382.7(POMT2):c.1911T>G (p.Leu637=)	rs3209079	0.82113
NM_013382.7(POMT2):c.*1137G>A	rs7158951	0.56341
NM_013382.7(POMT2):c.*790G>A	rs7159558	0.56247
NM_013382.7(POMT2):c.1184-47A>C	rs2287387	0.51704
NM_013382.7(POMT2):c.*1058G>A	rs11624564	0.41162
NM_013382.7(POMT2):c.*1967C>T	rs11547794	0.41103
NM_013382.7(POMT2):c.*1974G>A	rs11159254	0.41096
NM_013382.7(POMT2):c.*2325A>G	rs11547793	0.22179
NM_013382.7(POMT2):c.*75C>T	rs1055592	0.20469
NM_013382.7(POMT2):c.1911= (p.Leu637=)	rs3209079	0.17887
NM_013382.7(POMT2):c.1383= (p.Arg461=)	rs2270419	0.17126
NM_013382.7(POMT2):c.*1516A>G	rs45518539	0.14946
NM_013382.7(POMT2):c.*587G>A	rs10141995	0.14409
NM_013382.7(POMT2):c.1654-6A>G	rs4540995	0.14330
NM_013382.7(POMT2):c.1117-20C>T	rs7153929	0.11460
NM_013382.7(POMT2):c.*1748C>A	rs45458096	0.11420
NM_013382.7(POMT2):c.162G>T (p.Ala54=)	rs2270420	0.05519
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu)	rs8177536	0.03119
NM_013382.7(POMT2):c.*1087C>T	rs59725094	0.01993
NM_013382.7(POMT2):c.2175C>T (p.Tyr725=)	rs116434191	0.00658
NM_013382.7(POMT2):c.1183+14A>G	rs80099135	0.00613
NM_013382.7(POMT2):c.652G>A (p.Asp218Asn)	rs140785104	0.00496
NM_013382.7(POMT2):c.2148-18A>G	rs138488805	0.00343
NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln)	rs151078549	0.00333
NM_013382.7(POMT2):c.924-10C>T	rs142122657	0.00258
NM_013382.7(POMT2):c.1332+13C>T	rs142916824	0.00211
NM_013382.7(POMT2):c.1881G>A (p.Ala627=)	rs146588608	0.00158
NM_013382.7(POMT2):c.1683T>C (p.Asn561=)	rs146307965	0.00148
NM_013382.7(POMT2):c.1593G>A (p.Leu531=)	rs147934334	0.00102
NM_013382.7(POMT2):c.1935C>T (p.Leu645=)	rs141193672	0.00066
NM_013382.7(POMT2):c.1537A>G (p.Asn513Asp)	rs117173425	0.00056
NM_013382.7(POMT2):c.656+16C>G	rs200230662	0.00041
NM_013382.7(POMT2):c.66C>T (p.Gly22=)	rs200670377	0.00027
NM_013382.7(POMT2):c.1944A>G (p.Thr648=)	rs148146976	0.00026
NM_013382.7(POMT2):c.237G>A (p.Pro79=)	rs201322445	0.00006
NM_013382.7(POMT2):c.2057G>A (p.Arg686Gln)	rs200163818	0.00005
NM_013382.7(POMT2):c.1654-10C>T	rs754208063	0.00004
NM_013382.7(POMT2):c.629T>C (p.Met210Thr)	rs369654108	0.00001
NM_013382.7(POMT2):c.1117-7del
NM_013382.7(POMT2):c.1577-8dup
NM_013382.7(POMT2):c.2223A>G (p.Gly741=)	rs554801559
NM_013382.7(POMT2):c.548-11A>G

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