List of variants reported as uncertain significance for Mucopolysaccharidosis type 7 by Illumina Laboratory Services, Illumina

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

Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn)	rs149606212	0.00128
NM_000181.4(GUSB):c.*94A>G	rs536903750	0.00118
NM_000181.4(GUSB):c.1461T>C (p.Tyr487=)	rs200831987	0.00052
NM_000181.4(GUSB):c.1240C>T (p.Leu414=)	rs150686327	0.00022
NM_000181.4(GUSB):c.695C>G (p.Thr232Ser)	rs138618819	0.00016
NM_000181.4(GUSB):c.13T>C (p.Ser5Pro)	rs190496263	0.00015
NM_000181.4(GUSB):c.-10A>T	rs540793200	0.00009
NM_000181.4(GUSB):c.211-8C>G	rs2293340	0.00005
NM_000181.4(GUSB):c.532C>A (p.Pro178Thr)	rs11559281	0.00005
NM_000181.4(GUSB):c.1238C>T (p.Ala413Val)	rs752523400	0.00004
NM_000181.4(GUSB):c.324G>A (p.Pro108=)	rs546131174	0.00004
NM_000181.4(GUSB):c.-20C>T	rs577269089	0.00003
NM_000181.4(GUSB):c.1193G>A (p.Arg398His)	rs776843811	0.00002
NM_000181.4(GUSB):c.347G>A (p.Arg116His)	rs538431094	0.00002
NM_000181.4(GUSB):c.-19G>C	rs771999951	0.00001
NM_000181.4(GUSB):c.1050G>A (p.Lys350=)	rs121918182	0.00001
NM_000181.4(GUSB):c.1245-4G>A	rs548368848	0.00001
NM_000181.4(GUSB):c.210+11G>C	rs886062403	0.00001
NM_000181.4(GUSB):c.352A>G (p.Arg118Gly)	rs767239546	0.00001
NM_000181.4(GUSB):c.988G>T (p.Ala330Ser)	rs561880652	0.00001
NM_000181.4(GUSB):c.*12A>G	rs769514976
NM_000181.4(GUSB):c.*148A>G	rs568655640
NM_000181.4(GUSB):c.*154G>A	rs1790427973
NM_000181.4(GUSB):c.*208T>C	rs190201470
NM_000181.4(GUSB):c.*208T>G	rs190201470
NM_000181.4(GUSB):c.11G>C (p.Gly4Ala)	rs1355624664
NM_000181.4(GUSB):c.1245-4G>T	rs548368848
NM_000181.4(GUSB):c.1412A>C (p.Lys471Thr)	rs1302470051
NM_000181.4(GUSB):c.1790-18dup	rs750022485
NM_000181.4(GUSB):c.1912T>C (p.Ser638Pro)	rs1790444883
NM_000181.4(GUSB):c.45G>A (p.Leu15=)	rs886062404
NM_000181.4(GUSB):c.531C>A (p.Thr177=)	rs1392513223

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