List of variants reported as benign for PGM1-congenital disorder of glycosylation by Invitae

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_002633.3(PGM1):c.1464+14G>T	rs2269238	0.25474
NM_002633.3(PGM1):c.661C>T (p.Arg221Cys)	rs1126728	0.22903
NM_002633.3(PGM1):c.1258T>C (p.Tyr420His)	rs11208257	0.21027
NM_002633.3(PGM1):c.262A>G (p.Ile88Val)	rs855314	0.16859
NM_002633.3(PGM1):c.1501G>A (p.Val501Ile)	rs6676290	0.04986
NM_002633.3(PGM1):c.1145-7C>G	rs72922609	0.04055
NM_002633.3(PGM1):c.1280+7C>T	rs72922610	0.02818
NM_002633.3(PGM1):c.399T>C (p.Ile133=)	rs1126727	0.02624
NM_002633.3(PGM1):c.1500C>T (p.Ile500=)	rs61737416	0.01523
NM_002633.3(PGM1):c.1599+9C>T	rs115864084	0.01520
NM_002633.3(PGM1):c.247-5664G>A	rs77043134	0.01056
NM_002633.3(PGM1):c.573G>A (p.Ser191=)	rs112502842	0.00373
NM_002633.3(PGM1):c.18A>G (p.Thr6=)	rs111246749	0.00193
NM_002633.3(PGM1):c.1400C>A (p.Thr467Asn)	rs150266274	0.00137
NM_002633.3(PGM1):c.987C>T (p.Arg329=)	rs79097301	0.00038
NM_002633.3(PGM1):c.1027C>T (p.Arg343Trp)	rs577589562	0.00002
NM_002633.3(PGM1):c.1145-6del	rs2100998326
NM_002633.3(PGM1):c.1280+22dup

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