List of variants reported as pathogenic for PMM2-congenital disorder of glycosylation

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 136

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HGVS	dbSNP	gnomAD frequency
NM_000303.3(PMM2):c.422G>A (p.Arg141His)	rs28936415	0.00338
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)	rs190521996	0.00042
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser)	rs80338709	0.00027
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)	rs141498002	0.00017
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter)	rs764353860	0.00014
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn)	rs148032587	0.00014
NM_000303.3(PMM2):c.255+2T>C	rs139716296	0.00007
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr)	rs368582085	0.00006
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu)	rs150719105	0.00006
NM_000303.3(PMM2):c.24del (p.Cys9fs)	rs768021123	0.00004
NM_000303.3(PMM2):c.640-15479C>T	rs1258107584	0.00004
NM_000303.3(PMM2):c.691G>A (p.Val231Met)	rs80338707	0.00004
NM_000303.3(PMM2):c.200T>G (p.Val67Gly)	rs751986971	0.00003
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu)	rs80338701	0.00003
NM_000303.3(PMM2):c.640-9T>G	rs370160676	0.00003
NM_000303.3(PMM2):c.104T>A (p.Leu35Ter)	rs1555448899	0.00002
NM_000303.3(PMM2):c.255+1G>A	rs1060499598	0.00002
NM_000303.3(PMM2):c.367C>T (p.Arg123Ter)	rs191295403	0.00002
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)	rs104894526	0.00002
NM_000303.3(PMM2):c.548T>C (p.Phe183Ser)	rs780581250	0.00002
NM_000303.3(PMM2):c.580C>T (p.Arg194Ter)	rs199562225	0.00002
NM_000303.3(PMM2):c.178G>T (p.Val60Leu)	rs759513930	0.00001
NM_000303.3(PMM2):c.193G>T (p.Asp65Tyr)	rs104894527	0.00001
NM_000303.3(PMM2):c.256-1G>C	rs757394782	0.00001
NM_000303.3(PMM2):c.284del (p.Leu95fs)	rs757865122	0.00001
NM_000303.3(PMM2):c.310C>G (p.Leu104Val)	rs770458492	0.00001
NM_000303.3(PMM2):c.323C>T (p.Ala108Val)	rs200503569	0.00001
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)	rs80338700	0.00001
NM_000303.3(PMM2):c.395T>C (p.Ile132Thr)	rs80338702	0.00001
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg)	rs767831048	0.00001
NM_000303.3(PMM2):c.458T>C (p.Ile153Thr)	rs150577656	0.00001
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser)	rs760265100	0.00001
NM_000303.3(PMM2):c.560G>A (p.Trp187Ter)	rs1057516886	0.00001
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly)	rs80338704	0.00001
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser)	rs532870929	0.00001
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala)	rs398123309	0.00001
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser)	rs78290141	0.00001
NM_000303.3(PMM2):c.66+1G>T	rs937726878	0.00001
NM_000303.3(PMM2):c.95T>G (p.Leu32Arg)	rs104894533	0.00001
NM_000303.3(PMM2):c.97C>T (p.Gln33Ter)	rs149530060	0.00001
NC_000016.10:g.(?_8779459)_(8847845_?)del
NC_000016.10:g.(?_8797873)_(8797958_?)del
NC_000016.10:g.(?_8797873)_(8813116_?)del
NC_000016.10:g.(?_8804742)_(8804853_?)del
NC_000016.10:g.(?_8804742)_(8813116_?)del
NC_000016.10:g.(?_8811069)_(8832245_?)del
NC_000016.10:g.8852245_8823657delinsAluYb8
NC_000016.9:g.(?_8895646)_(8895777_?)del
NC_000016.9:g.(?_8900163)_(8941692_?)del
NC_000016.9:g.(?_8905475)_(8905590_?)del
NC_000016.9:g.(?_8906828)_(8906983_?)del
NM_000303.3(PMM2):c.-167G>T	rs1596481676
NM_000303.3(PMM2):c.124G>T (p.Gly42Ter)
NM_000303.3(PMM2):c.131T>C (p.Val44Ala)	rs104894534
NM_000303.3(PMM2):c.157C>T (p.Gln53Ter)	rs1057520708
NM_000303.3(PMM2):c.160dup (p.Glu54fs)	rs753122961
NM_000303.3(PMM2):c.16_22del (p.Pro6fs)	rs2141014102
NM_000303.3(PMM2):c.179-1G>C
NM_000303.3(PMM2):c.17_28del (p.Pro6_Cys9del)
NM_000303.3(PMM2):c.190del (p.Tyr64fs)	rs1339004837
NM_000303.3(PMM2):c.196dup (p.Tyr66fs)
NM_000303.3(PMM2):c.197_198del (p.Tyr66fs)
NM_000303.3(PMM2):c.1A>G (p.Met1Val)	rs786204591
NM_000303.3(PMM2):c.201_202del (p.Phe68fs)	rs1343161886
NM_000303.3(PMM2):c.203T>G (p.Phe68Cys)	rs373788015
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser)	rs769648248
NM_000303.3(PMM2):c.208G>T (p.Glu70Ter)
NM_000303.3(PMM2):c.231del (p.Asp78fs)
NM_000303.3(PMM2):c.243_244del (p.Leu82fs)	rs2060637616
NM_000303.3(PMM2):c.253C>T (p.Gln85Ter)
NM_000303.3(PMM2):c.255+1G>C
NM_000303.3(PMM2):c.255+2T>G
NM_000303.3(PMM2):c.256-2A>G	rs1057516372
NM_000303.3(PMM2):c.264_265del (p.His90fs)	rs2141019983
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr)	rs104894532
NM_000303.3(PMM2):c.303C>G (p.Asn101Lys)
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe)	rs387906824
NM_000303.3(PMM2):c.324del (p.Ile110fs)	rs1555449314
NM_000303.3(PMM2):c.349G>C (p.Gly117Arg)	rs104894530
NM_000303.3(PMM2):c.349G>T (p.Gly117Cys)	rs104894530
NM_000303.3(PMM2):c.34G>C (p.Asp12His)
NM_000303.3(PMM2):c.355T>C (p.Phe119Leu)	rs1057517110
NM_000303.3(PMM2):c.377_381del (p.Met126fs)	rs2141022986
NM_000303.3(PMM2):c.385G>A (p.Val129Met)	rs104894525
NM_000303.3(PMM2):c.385G>T (p.Val129Leu)	rs104894525
NM_000303.3(PMM2):c.391C>G (p.Pro131Ala)
NM_000303.3(PMM2):c.394A>T (p.Ile132Phe)	rs753632453
NM_000303.3(PMM2):c.414del (p.Glu139fs)	rs755008774
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys)	rs80338703
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala)	rs958073558
NM_000303.3(PMM2):c.451G>T (p.Glu151Ter)	rs2141023340
NM_000303.3(PMM2):c.451_454del	rs1274794195
NM_000303.3(PMM2):c.457dup (p.Ile153fs)	rs2141023345
NM_000303.3(PMM2):c.458T>A (p.Ile153Lys)
NM_000303.3(PMM2):c.458_462del (p.Ile153fs)	rs774738702
NM_000303.3(PMM2):c.460A>T (p.Arg154Ter)
NM_000303.3(PMM2):c.463C>T (p.Gln155Ter)	rs754407762
NM_000303.3(PMM2):c.467_468delinsT (p.Lys156fs)
NM_000303.3(PMM2):c.488_491del (p.Lys163fs)	rs2060678732
NM_000303.3(PMM2):c.511dup (p.Thr171fs)	rs1057516323
NM_000303.3(PMM2):c.523+1del	rs2141023403
NM_000303.3(PMM2):c.556G>A (p.Gly186Arg)	rs1384610957
NM_000303.3(PMM2):c.55del (p.Ala19fs)	rs1596481889
NM_000303.3(PMM2):c.561G>A (p.Trp187Ter)	rs201855351
NM_000303.3(PMM2):c.562del (p.Asp188fs)
NM_000303.3(PMM2):c.566_571delinsGTGGATTTCC (p.Lys189fs)	rs2060686245
NM_000303.3(PMM2):c.573C>A (p.Tyr191Ter)	rs201440361
NM_000303.3(PMM2):c.584_585del (p.His195fs)
NM_000303.3(PMM2):c.59del (p.Pro20fs)	rs2141014161
NM_000303.3(PMM2):c.618C>A (p.Phe206Leu)	rs1460691341
NM_000303.3(PMM2):c.639+1G>A	rs1057517183
NM_000303.3(PMM2):c.639+2T>C
NM_000303.3(PMM2):c.640-23A>G	rs981372486
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser)	rs1555453238
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile)	rs78290141
NM_000303.3(PMM2):c.64C>T (p.Gln22Ter)
NM_000303.3(PMM2):c.66+1G>A	rs937726878
NM_000303.3(PMM2):c.66+1del	rs1555495965
NM_000303.3(PMM2):c.667G>A (p.Asp223Asn)
NM_000303.3(PMM2):c.669C>A (p.Asp223Glu)
NM_000303.3(PMM2):c.669C>G (p.Asp223Glu)	rs104894531
NM_000303.3(PMM2):c.67-1G>C
NM_000303.3(PMM2):c.67-2A>G
NM_000303.3(PMM2):c.677C>G (p.Thr226Ser)	rs80338706
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys)	rs558826439
NM_000303.3(PMM2):c.687C>G (p.Tyr229Ter)	rs148759949
NM_000303.3(PMM2):c.696del (p.Ala233fs)	rs2141051516
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter)	rs763091085
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)	rs80338708
NM_000303.3(PMM2):c.710C>T (p.Thr237Met)	rs80338708
NM_000303.3(PMM2):c.713G>C (p.Arg238Pro)	rs151319324
NM_000303.3(PMM2):c.715A>T (p.Arg239Trp)
NM_000303.3(PMM2):c.728T>C (p.Leu243Pro)	rs2060937980
NM_000303.3(PMM2):c.72del (p.Thr25fs)	rs2060617981
NM_000303.3(PMM2):c.73dup (p.Thr25fs)	rs2141016934
NM_000303.3(PMM2):c.95_96delinsGC (p.Leu32Arg)	rs398123312

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