List of variants in gene combination POMGNT1, TSPAN1 reported as uncertain significance for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)	rs74374973	0.00994
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile)	rs17102066	0.00264
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn)	rs142485035	0.00119
NM_017739.4(POMGNT1):c.1826G>A (p.Arg609Gln)	rs371741722	0.00006
NM_017739.4(POMGNT1):c.1927T>G (p.Phe643Val)	rs199534074	0.00004
NM_017739.4(POMGNT1):c.440G>A (p.Arg147His)	rs776165339	0.00003
NM_017739.4(POMGNT1):c.860T>G (p.Ile287Ser)	rs200863680	0.00002
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His)	rs762972459	0.00001
NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=)	rs200730202	0.00001
NM_017739.4(POMGNT1):c.1721C>T (p.Thr574Ile)	rs556069604	0.00001
NM_017739.4(POMGNT1):c.793C>T (p.Arg265Cys)	rs774752168	0.00001
NM_017739.4(POMGNT1):c.799C>T (p.Arg267Cys)	rs148131756	0.00001
NM_017739.4(POMGNT1):c.902A>G (p.Asn301Ser)	rs754653320	0.00001
NM_017739.4(POMGNT1):c.908C>T (p.Pro303Leu)	rs753453050	0.00001
NM_017739.4(POMGNT1):c.*457C>T	rs1657513729
NM_017739.4(POMGNT1):c.1117A>C (p.Lys373Gln)	rs752591703
NM_017739.4(POMGNT1):c.1648A>G (p.Ser550Gly)	rs2148172085
NM_017739.4(POMGNT1):c.1681C>T (p.Pro561Ser)	rs2148167563
NM_017739.4(POMGNT1):c.703G>A (p.Gly235Arg)	rs1658069732
NM_017739.4(POMGNT1):c.722A>G (p.Lys241Arg)	rs2148202208

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