List of variants in gene combination COL1A1, LOC126862586 reported as uncertain significance for bone disorder

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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: 26

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.768C>T (p.Pro256=)	rs199891984	0.00007
NM_000088.4(COL1A1):c.731G>A (p.Arg244His)	rs745932436	0.00002
NM_000088.4(COL1A1):c.730C>T (p.Arg244Cys)	rs1435869455	0.00001
NM_000088.4(COL1A1):c.750+3G>A	rs1252719162	0.00001
NM_000088.4(COL1A1):c.751-3C>T	rs775914893	0.00001
NM_000088.4(COL1A1):c.804+15A>C	rs148110802	0.00001
NM_000088.4(COL1A1):c.804+3G>A	rs371309429	0.00001
NM_000088.4(COL1A1):c.862G>A (p.Glu288Lys)	rs72645341	0.00001
NM_000088.4(COL1A1):c.903+3G>A	rs748604968	0.00001
NM_000088.4(COL1A1):c.703G>A (p.Ala235Thr)	rs1907674004
NM_000088.4(COL1A1):c.721C>T (p.Pro241Ser)	rs2509242113
NM_000088.4(COL1A1):c.746C>A (p.Pro249His)	rs1907669544
NM_000088.4(COL1A1):c.750+4A>G	rs2509241815
NM_000088.4(COL1A1):c.751-2A>T	rs193922158
NM_000088.4(COL1A1):c.758G>A (p.Arg253Gln)	rs1191323992
NM_000088.4(COL1A1):c.766C>T (p.Pro256Ser)	rs1245834661
NM_000088.4(COL1A1):c.804+3G>T	rs371309429
NM_000088.4(COL1A1):c.818T>C (p.Leu273Ser)
NM_000088.4(COL1A1):c.853C>G (p.Pro285Ala)	rs1567761937
NM_000088.4(COL1A1):c.858+4A>G	rs2144581752
NM_000088.4(COL1A1):c.859-5_859-2dup
NM_000088.4(COL1A1):c.874C>T (p.Pro292Ser)	rs139840296
NM_000088.4(COL1A1):c.889G>A (p.Ala297Thr)	rs2509236631
NM_000088.4(COL1A1):c.898C>A (p.Gln300Lys)
NM_000088.4(COL1A1):c.900G>T (p.Gln300His)	rs2509236505
NM_000088.4(COL1A1):c.904-10T>A	rs72645344

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