List of variants in gene BMP1 reported as pathogenic for not provided

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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: 19

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HGVS	dbSNP	gnomAD frequency
NC_000008.10:g.(?_22031095)_(22038016_?)del
NC_000008.11:g.22180369_22180385del
NM_001199.4(BMP1):c.2110_2111del (p.Lys704fs)
NM_001199.4(BMP1):c.2188dup (p.Gln730fs)
NM_006129.5(BMP1):c.1072del (p.Glu358fs)
NM_006129.5(BMP1):c.1297G>T (p.Ala433Ser)	rs786205220
NM_006129.5(BMP1):c.1833C>A (p.Tyr611Ter)
NM_006129.5(BMP1):c.1838_1872del (p.Pro613fs)
NM_006129.5(BMP1):c.1841dup (p.Asn614fs)
NM_006129.5(BMP1):c.1857G>A (p.Trp619Ter)
NM_006129.5(BMP1):c.1938C>A (p.Tyr646Ter)
NM_006129.5(BMP1):c.208C>T (p.Gln70Ter)	rs1422817588
NM_006129.5(BMP1):c.2431C>T (p.Arg811Ter)
NM_006129.5(BMP1):c.2545C>T (p.Arg849Ter)
NM_006129.5(BMP1):c.2632C>T (p.Gln878Ter)
NM_006129.5(BMP1):c.2675G>A (p.Trp892Ter)
NM_006129.5(BMP1):c.388_389dup (p.Trp130fs)
NM_006129.5(BMP1):c.549C>A (p.Cys183Ter)
NM_006129.5(BMP1):c.743del (p.Asn248fs)

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