List of variants in gene combination G6PC3, LOC130060959 reported as uncertain significance for autosomal recessive disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_138387.4(G6PC3):c.166G>A (p.Ala56Thr)	rs140585667	0.00006
NM_138387.4(G6PC3):c.169G>A (p.Val57Met)	rs150477295	0.00006
NM_138387.4(G6PC3):c.201C>T (p.Leu67=)	rs375273894	0.00002
NM_138387.4(G6PC3):c.101A>T (p.Asp34Val)	rs2049968647
NM_138387.4(G6PC3):c.106A>C (p.Lys36Gln)	rs2144135194
NM_138387.4(G6PC3):c.110T>G (p.Ile37Ser)	rs1157699874
NM_138387.4(G6PC3):c.124T>A (p.Tyr42Asn)
NM_138387.4(G6PC3):c.142T>G (p.Tyr48Asp)
NM_138387.4(G6PC3):c.145G>A (p.Ala49Thr)	rs1417784733
NM_138387.4(G6PC3):c.146C>T (p.Ala49Val)
NM_138387.4(G6PC3):c.175T>C (p.Trp59Arg)	rs752966267
NM_138387.4(G6PC3):c.183C>A (p.Ser61Arg)	rs2144135649
NM_138387.4(G6PC3):c.184C>T (p.Leu62Phe)	rs2144135656
NM_138387.4(G6PC3):c.187A>G (p.Ile63Val)	rs34878178
NM_138387.4(G6PC3):c.203A>G (p.Asn68Ser)
NM_138387.4(G6PC3):c.211_213dup (p.Phe71_Lys72insPhe)
NM_138387.4(G6PC3):c.86T>C (p.Ile29Thr)	rs2144135089
NM_138387.4(G6PC3):c.98G>A (p.Gly33Asp)	rs1448628053

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