ClinVar Miner

List of variants in gene POMT1 reported as uncertain significance by GeneDx

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Total variants: 11
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NM_001077365.2(POMT1):c.1150G>A (p.Gly384Ser) rs146234177
NM_001077365.2(POMT1):c.1256_1257insACA (p.Gln419dup) rs773942978
NM_001077365.2(POMT1):c.1331G>A (p.Arg444His) rs758736387
NM_001077365.2(POMT1):c.1503_1508dup (p.500_501RE[4]) rs727502853
NM_001077365.2(POMT1):c.1799G>T (p.Arg600Leu) rs753485021
NM_001077365.2(POMT1):c.1837C>T (p.Arg613Cys) rs759135168
NM_001077365.2(POMT1):c.1838G>A (p.Arg613His) rs147601415
NM_001077365.2(POMT1):c.724G>A (p.Ala242Thr) rs779771679
NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg) rs747506380
NM_001077365.2(POMT1):c.868C>T (p.Arg290Trp) rs886042627
NM_001077365.2(POMT1):c.986+5G>A rs370096853

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