ClinVar Miner

List of variants in gene POMT1 reported as pathogenic for cobblestone lissencephaly

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_007171.3(POMT1):c.1044C>A (p.Tyr348Ter)
NM_007171.3(POMT1):c.1056T>A (p.Tyr352Ter) rs765230689
NM_007171.3(POMT1):c.1153C>T (p.Gln385Ter) rs200056620
NM_007171.3(POMT1):c.1260_1262del (p.Leu421del) rs587777818
NM_007171.3(POMT1):c.1261_1262del (p.Leu421fs) rs1564364615
NM_007171.3(POMT1):c.1427T>G (p.Leu476Ter) rs1554780670
NM_007171.3(POMT1):c.1864C>T (p.Arg622Ter) rs794727208
NM_007171.3(POMT1):c.1903_1918dup (p.Gly640fs)
NM_007171.3(POMT1):c.2110dup (p.Ala704fs) rs587777817
NM_007171.3(POMT1):c.2167dup (p.Asp723fs) rs398124245
NM_007171.3(POMT1):c.2177_2178TC[1] (p.Ser727fs) rs587777819
NM_007171.3(POMT1):c.2210_2213dup (p.Asp738fs)
NM_007171.3(POMT1):c.226G>A (p.Gly76Arg) rs28941782
NM_007171.3(POMT1):c.418_420del (p.Met140del) rs587777820
NM_007171.3(POMT1):c.605+1G>C rs766648827
NM_007171.3(POMT1):c.606del (p.Ile203fs)
NM_007171.3(POMT1):c.761del (p.Gln254fs) rs1356791510
NM_007171.3(POMT1):c.907C>T (p.Gln303Ter) rs119462981

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