List of variants in gene BMP1, SFTPC studied for Osteogenesis Imperfecta, Recessive

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001317778.2(SFTPC):c.*123G>A	rs7592	0.35835
NM_001317778.2(SFTPC):c.436-26C>G	rs2070687	0.28233
NM_001317778.2(SFTPC):c.*174G>A	rs1139547	0.26088
NM_001317778.2(SFTPC):c.539G>A (p.Ser180Asn)	rs1124	0.25849
NM_001317778.2(SFTPC):c.413C>A (p.Thr138Asn)	rs4715	0.20729
NM_001317778.2(SFTPC):c.*173C>T	rs1126931	0.14333
NM_003018.3(SFTPC):c.-134G>C	rs28438700	0.06596
NM_001317778.2(SFTPC):c.201+14G>A	rs8192327	0.05091
NM_001317778.2(SFTPC):c.*36A>G	rs75518353	0.01088

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