ClinVar Miner

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

Included ClinVar conditions (588):
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Gene type:
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.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)
NM_000088.4(COL1A1):c.730C>T (p.Arg244Cys)
NM_000088.4(COL1A1):c.731G>A (p.Arg244His)
NM_000088.4(COL1A1):c.746C>A (p.Pro249His)
NM_000088.4(COL1A1):c.750+3G>A
NM_000088.4(COL1A1):c.750+4A>G
NM_000088.4(COL1A1):c.751-2A>T
NM_000088.4(COL1A1):c.751-3C>T
NM_000088.4(COL1A1):c.758G>A (p.Arg253Gln) rs1191323992
NM_000088.4(COL1A1):c.766C>T (p.Pro256Ser)
NM_000088.4(COL1A1):c.804+15A>C rs148110802
NM_000088.4(COL1A1):c.804+3G>A
NM_000088.4(COL1A1):c.804+3G>T
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
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)
NM_000088.4(COL1A1):c.898C>A (p.Gln300Lys)
NM_000088.4(COL1A1):c.900G>T (p.Gln300His)
NM_000088.4(COL1A1):c.904-10T>A

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