List of variants in gene COL2A1 studied for Spondyloepimetaphyseal dysplasia, Strudwick type

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.1051G>C (p.Gly351Arg)
NM_001844.5(COL2A1):c.1060G>A (p.Gly354Arg)	rs121912871
NM_001844.5(COL2A1):c.1240G>A (p.Gly414Arg)
NM_001844.5(COL2A1):c.1348G>C (p.Gly450Arg)	rs2136575653
NM_001844.5(COL2A1):c.1475G>T (p.Gly492Val)	rs121912881
NM_001844.5(COL2A1):c.1510G>T (p.Gly504Cys)	rs121912880
NM_001844.5(COL2A1):c.1754G>A (p.Gly585Asp)
NM_001844.5(COL2A1):c.1780G>A (p.Gly594Arg)	rs2136564199
NM_001844.5(COL2A1):c.2167G>A (p.Gly723Ser)	rs1939173389
NM_001844.5(COL2A1):c.2725G>A (p.Gly909Ser)
NM_001844.5(COL2A1):c.2725G>T (p.Gly909Cys)	rs121912875
NM_001844.5(COL2A1):c.2974A>G (p.Arg992Gly)	rs121912895
NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser)	rs2136522964
NM_001844.5(COL2A1):c.3554G>A (p.Gly1185Glu)	rs2136514291
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser)	rs121912870
NM_001844.5(COL2A1):c.905C>T (p.Ala302Val)	rs1555168505

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