ClinVar Miner

List of variants in gene POMT1 reported by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
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Total variants: 14
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HGVS dbSNP
NM_001077365.2(POMT1):c.1047T>C (p.Asp349=) rs3739494
NM_001077365.2(POMT1):c.123-5dup rs148086540
NM_001077365.2(POMT1):c.1255C>T (p.Gln419Ter)
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751
NM_001077365.2(POMT1):c.1826-6C>A rs140258585
NM_001077365.2(POMT1):c.1826-7C>A rs148180760
NM_001077365.2(POMT1):c.2003+13C>T rs4740165
NM_001077365.2(POMT1):c.42C>T (p.Asp14=) rs150937126
NM_001077365.2(POMT1):c.485del (p.Phe162fs) rs1250351189
NM_001077365.2(POMT1):c.699+52C>T rs3887873
NM_001077365.2(POMT1):c.699+53A>G rs2296949
NM_001077365.2(POMT1):c.868C>T (p.Arg290Trp) rs886042627
NM_001077365.2(POMT1):c.876T>C (p.Thr292=) rs10901065
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164

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