ClinVar Miner

List of variants in gene COL27A1 reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_032888.4(COL27A1):c.1962+1G>A rs1387536593 0.00001
NM_032888.4(COL27A1):c.3249+1G>T rs747841271 0.00001
NM_032888.4(COL27A1):c.4809+1G>C rs766405509 0.00001
NC_000009.11:g.(?_117044259)_(117046337_?)del
NM_032888.4(COL27A1):c.1908+1G>A
NM_032888.4(COL27A1):c.1963-2A>G
NM_032888.4(COL27A1):c.2016+2_2016+3del
NM_032888.4(COL27A1):c.2026G>A (p.Gly676Arg) rs2135241121
NM_032888.4(COL27A1):c.2071-2A>G rs1829092348
NM_032888.4(COL27A1):c.2124+2T>C
NM_032888.4(COL27A1):c.2125-2del
NM_032888.4(COL27A1):c.2169+1G>T
NM_032888.4(COL27A1):c.2169+2T>A
NM_032888.4(COL27A1):c.2268+1G>A
NM_032888.4(COL27A1):c.2268+1G>T
NM_032888.4(COL27A1):c.2269-2A>G
NM_032888.4(COL27A1):c.2367+2T>C rs2135336813
NM_032888.4(COL27A1):c.2367G>A (p.Pro789=) rs1830319943
NM_032888.4(COL27A1):c.2466+1G>T rs1831165670
NM_032888.4(COL27A1):c.2521-2A>C rs2135433834
NM_032888.4(COL27A1):c.2565+1G>A
NM_032888.4(COL27A1):c.2619+1G>T
NM_032888.4(COL27A1):c.2880+1G>A rs1832811905
NM_032888.4(COL27A1):c.2980-2A>G rs2135522530
NM_032888.4(COL27A1):c.3033+2T>G
NM_032888.4(COL27A1):c.3142-1G>A
NM_032888.4(COL27A1):c.3195+2T>G
NM_032888.4(COL27A1):c.3196-1G>A rs1588816777
NM_032888.4(COL27A1):c.3250-2A>G rs2135594065
NM_032888.4(COL27A1):c.3339+2T>C
NM_032888.4(COL27A1):c.3447+2T>C
NM_032888.4(COL27A1):c.3609+1G>T rs2135633751
NM_032888.4(COL27A1):c.3609+2T>A
NM_032888.4(COL27A1):c.3610-2A>G rs2135665946
NM_032888.4(COL27A1):c.3771+2T>C rs1436944837
NM_032888.4(COL27A1):c.3771+2_3771+3delinsAG rs2135702107
NM_032888.4(COL27A1):c.4207-2del
NM_032888.4(COL27A1):c.4369-2_4369-1del rs2131627071
NM_032888.4(COL27A1):c.4584+2T>A
NM_032888.4(COL27A1):c.4584+2T>C
NM_032888.4(COL27A1):c.4809+1G>A
NM_032888.4(COL27A1):c.4846-2A>G rs2131667389
NM_032888.4(COL27A1):c.4938+1G>A rs1432130710
NM_032888.4(COL27A1):c.4938+1G>C rs1432130710
NM_032888.4(COL27A1):c.4938+1G>T rs1432130710
NM_032888.4(COL27A1):c.4938+2T>C rs1828901917
NM_032888.4(COL27A1):c.4938+2_4938+15del rs2131678418
NM_032888.4(COL27A1):c.5217+1G>A
NM_032888.4(COL27A1):c.62+1G>C rs1848097390
NM_032888.4(COL27A1):c.62+1G>T rs1848097390
NM_032888.4(COL27A1):c.63-1G>A rs2135027384
NM_032888.4(COL27A1):c.63-3_77del

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