List of variants reported as pathogenic for spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_080605.4(B3GALT6):c.1A>G (p.Met1Val)	rs786200938	0.00004
NM_080605.4(B3GALT6):c.694C>T (p.Arg232Cys)	rs397514717	0.00001
NM_080605.4(B3GALT6):c.193A>G (p.Ser65Gly)	rs397514719
NM_080605.4(B3GALT6):c.200C>T (p.Pro67Leu)	rs397514720
NM_080605.4(B3GALT6):c.466G>A (p.Asp156Asn)	rs397514718
NM_080605.4(B3GALT6):c.899G>C (p.Cys300Ser)	rs786200939

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