List of variants in gene B9D1 reported as pathogenic for polydactyly-syndactyly-triphalangism

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_015681.6(B9D1):c.151T>C (p.Ser51Pro)	rs546359789	0.00011
NM_015681.6(B9D1):c.341+2T>C	rs143149764	0.00009
NM_015681.6(B9D1):c.467G>A (p.Arg156Gln)	rs886038205	0.00001
NM_015681.6(B9D1):c.285_341+154del	rs1598057395
NM_015681.6(B9D1):c.391C>T (p.Gln131Ter)
NM_015681.6(B9D1):c.460G>T (p.Glu154Ter)

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