List of variants reported as likely pathogenic for PMM2-congenital disorder of glycosylation by Myriad Genetics, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn)	rs148032587	0.00014
NM_000303.3(PMM2):c.323C>T (p.Ala108Val)	rs200503569	0.00005
NM_000303.3(PMM2):c.640-9T>G	rs370160676	0.00003
NM_000303.3(PMM2):c.255+1G>A	rs1060499598	0.00002
NM_000303.3(PMM2):c.458T>C (p.Ile153Thr)	rs150577656	0.00001
NM_000303.3(PMM2):c.228C>A (p.Tyr76Ter)	rs2549144489
NM_000303.3(PMM2):c.250A>T (p.Arg84Ter)	rs2549144508
NM_000303.3(PMM2):c.295_296del (p.Leu99fs)	rs2549145197
NM_000303.3(PMM2):c.296T>A (p.Leu99Ter)	rs2060647574
NM_000303.3(PMM2):c.309T>A (p.Cys103Ter)	rs2549145213
NM_000303.3(PMM2):c.325A>T (p.Lys109Ter)	rs2549145236
NM_000303.3(PMM2):c.340A>T (p.Lys114Ter)	rs781131678
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)	rs80338708
NM_000303.3(PMM2):c.76A>T (p.Lys26Ter)	rs1403917706

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