ClinVar Miner

List of variants in gene COL12A1 reported as uncertain significance by Invitae

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Total variants: 132
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HGVS dbSNP
NM_004370.5(COL12A1):c.100A>G (p.Lys34Glu)
NM_004370.5(COL12A1):c.1053G>T (p.Lys351Asn)
NM_004370.5(COL12A1):c.113A>C (p.Glu38Ala)
NM_004370.5(COL12A1):c.1175G>A (p.Arg392His) rs755195861
NM_004370.5(COL12A1):c.1177G>A (p.Asp393Asn)
NM_004370.5(COL12A1):c.1186G>A (p.Ala396Thr)
NM_004370.5(COL12A1):c.1276A>G (p.Lys426Glu)
NM_004370.5(COL12A1):c.1356G>T (p.Gly452=)
NM_004370.5(COL12A1):c.1434G>C (p.Gln478His)
NM_004370.5(COL12A1):c.1471G>C (p.Glu491Gln)
NM_004370.5(COL12A1):c.1775C>T (p.Ala592Val)
NM_004370.5(COL12A1):c.1783C>A (p.His595Asn) rs370544100
NM_004370.5(COL12A1):c.188C>T (p.Thr63Met)
NM_004370.5(COL12A1):c.1892-4dup
NM_004370.5(COL12A1):c.1892-6_1892-5insG
NM_004370.5(COL12A1):c.1988A>G (p.His663Arg) rs764241362
NM_004370.5(COL12A1):c.2006C>T (p.Ala669Val) rs201657576
NM_004370.5(COL12A1):c.2038C>G (p.Pro680Ala)
NM_004370.5(COL12A1):c.2044T>A (p.Ser682Thr) rs371321756
NM_004370.5(COL12A1):c.2108C>T (p.Ala703Val) rs1013873051
NM_004370.5(COL12A1):c.2180G>A (p.Arg727Gln)
NM_004370.5(COL12A1):c.226A>G (p.Thr76Ala)
NM_004370.5(COL12A1):c.2314C>T (p.Pro772Ser)
NM_004370.5(COL12A1):c.2324G>A (p.Arg775Lys)
NM_004370.5(COL12A1):c.2374G>A (p.Val792Ile)
NM_004370.5(COL12A1):c.2496A>T (p.Leu832Phe) rs199992321
NM_004370.5(COL12A1):c.2546C>A (p.Thr849Asn) rs559028883
NM_004370.5(COL12A1):c.2569C>G (p.Gln857Glu)
NM_004370.5(COL12A1):c.2588G>A (p.Gly863Glu)
NM_004370.5(COL12A1):c.2696G>A (p.Gly899Glu) rs201382636
NM_004370.5(COL12A1):c.2714G>A (p.Arg905His)
NM_004370.5(COL12A1):c.2879C>T (p.Thr960Met) rs200698641
NM_004370.5(COL12A1):c.292G>A (p.Asp98Asn) rs558571598
NM_004370.5(COL12A1):c.2968G>T (p.Asp990Tyr)
NM_004370.5(COL12A1):c.29_30delCCinsAA (p.Ala10Glu)
NM_004370.5(COL12A1):c.3034A>G (p.Met1012Val) rs1188543260
NM_004370.5(COL12A1):c.3130C>G (p.Pro1044Ala) rs200490883
NM_004370.5(COL12A1):c.3245C>G (p.Thr1082Arg) rs762817385
NM_004370.5(COL12A1):c.3467A>T (p.Asn1156Ile)
NM_004370.5(COL12A1):c.3638C>A (p.Ala1213Glu)
NM_004370.5(COL12A1):c.3650C>A (p.Thr1217Asn)
NM_004370.5(COL12A1):c.3670C>T (p.Arg1224Cys)
NM_004370.5(COL12A1):c.3691A>G (p.Ile1231Val) rs1449618151
NM_004370.5(COL12A1):c.3782G>A (p.Ser1261Asn)
NM_004370.5(COL12A1):c.3814A>G (p.Lys1272Glu)
NM_004370.5(COL12A1):c.3835+4A>G
NM_004370.5(COL12A1):c.3892C>A (p.Pro1298Thr)
NM_004370.5(COL12A1):c.3899C>T (p.Ala1300Val)
NM_004370.5(COL12A1):c.3905A>G (p.Lys1302Arg)
NM_004370.5(COL12A1):c.3928G>C (p.Gly1310Arg)
NM_004370.5(COL12A1):c.3967C>G (p.Leu1323Val) rs759722280
NM_004370.5(COL12A1):c.4003A>T (p.Ile1335Phe) rs1554182853
NM_004370.5(COL12A1):c.4010A>G (p.Asn1337Ser)
NM_004370.5(COL12A1):c.4052A>G (p.Asp1351Gly)
NM_004370.5(COL12A1):c.4070A>G (p.Asn1357Ser)
NM_004370.5(COL12A1):c.4255T>A (p.Tyr1419Asn) rs758640189
NM_004370.5(COL12A1):c.42G>A (p.Ala14=)
NM_004370.5(COL12A1):c.4312A>G (p.Ser1438Gly)
NM_004370.5(COL12A1):c.4445T>C (p.Ile1482Thr)
NM_004370.5(COL12A1):c.4613A>G (p.Asn1538Ser) rs115246424
NM_004370.5(COL12A1):c.4676T>C (p.Val1559Ala)
NM_004370.5(COL12A1):c.469A>G (p.Lys157Glu)
NM_004370.5(COL12A1):c.4744A>C (p.Met1582Leu) rs200520924
NM_004370.5(COL12A1):c.4853G>T (p.Ser1618Ile)
NM_004370.5(COL12A1):c.4936G>C (p.Val1646Leu) rs779002973
NM_004370.5(COL12A1):c.4991C>A (p.Thr1664Asn) rs754587593
NM_004370.5(COL12A1):c.5093T>C (p.Met1698Thr)
NM_004370.5(COL12A1):c.5308A>G (p.Thr1770Ala)
NM_004370.5(COL12A1):c.5393C>T (p.Thr1798Met) rs370767331
NM_004370.5(COL12A1):c.5410C>T (p.Arg1804Trp) rs201973949
NM_004370.5(COL12A1):c.5432A>G (p.Gln1811Arg) rs558214604
NM_004370.5(COL12A1):c.5467G>A (p.Val1823Ile) rs201408175
NM_004370.5(COL12A1):c.5501G>A (p.Arg1834Gln) rs182768408
NM_004370.5(COL12A1):c.5547C>A (p.Asn1849Lys)
NM_004370.5(COL12A1):c.5582A>G (p.Asn1861Ser) rs1160822324
NM_004370.5(COL12A1):c.5587C>T (p.Arg1863Cys) rs201372309
NM_004370.5(COL12A1):c.5615G>A (p.Arg1872His)
NM_004370.5(COL12A1):c.5767G>A (p.Gly1923Arg)
NM_004370.5(COL12A1):c.5839C>A (p.Pro1947Thr) rs191233787
NM_004370.5(COL12A1):c.5873C>G (p.Pro1958Arg)
NM_004370.5(COL12A1):c.5881G>A (p.Val1961Met)
NM_004370.5(COL12A1):c.5893C>A (p.Arg1965Ser)
NM_004370.5(COL12A1):c.5893C>T (p.Arg1965Cys) rs200487396
NM_004370.5(COL12A1):c.5954A>G (p.Asn1985Ser)
NM_004370.5(COL12A1):c.5978G>A (p.Arg1993Gln)
NM_004370.5(COL12A1):c.5987C>T (p.Pro1996Leu)
NM_004370.5(COL12A1):c.6026C>T (p.Ser2009Leu) rs776981761
NM_004370.5(COL12A1):c.6070C>T (p.Pro2024Ser)
NM_004370.5(COL12A1):c.607C>A (p.Leu203Ile) rs375673671
NM_004370.5(COL12A1):c.6100T>C (p.Phe2034Leu)
NM_004370.5(COL12A1):c.6448T>C (p.Tyr2150His) rs200450866
NM_004370.5(COL12A1):c.6608T>C (p.Leu2203Ser)
NM_004370.5(COL12A1):c.6652G>C (p.Asp2218His)
NM_004370.5(COL12A1):c.6660C>G (p.Phe2220Leu)
NM_004370.5(COL12A1):c.6889G>A (p.Ala2297Thr)
NM_004370.5(COL12A1):c.6916C>T (p.Pro2306Ser) rs1554171436
NM_004370.5(COL12A1):c.6919C>T (p.Pro2307Ser)
NM_004370.5(COL12A1):c.6922C>G (p.Pro2308Ala) rs55997127
NM_004370.5(COL12A1):c.7025T>C (p.Val2342Ala)
NM_004370.5(COL12A1):c.7048G>T (p.Val2350Leu)
NM_004370.5(COL12A1):c.713G>C (p.Arg238Thr) rs1554188387
NM_004370.5(COL12A1):c.7223C>T (p.Thr2408Met) rs141593495
NM_004370.5(COL12A1):c.7299G>A (p.Thr2433=) rs35551395
NM_004370.5(COL12A1):c.7338G>T (p.Leu2446Phe)
NM_004370.5(COL12A1):c.741T>G (p.Ile247Met)
NM_004370.5(COL12A1):c.7477G>A (p.Glu2493Lys) rs372985511
NM_004370.5(COL12A1):c.7541A>G (p.Asp2514Gly)
NM_004370.5(COL12A1):c.7569G>A (p.Met2523Ile)
NM_004370.5(COL12A1):c.7853C>T (p.Thr2618Met) rs201988277
NM_004370.5(COL12A1):c.785G>A (p.Arg262Lys) rs1554188366
NM_004370.5(COL12A1):c.8059A>T (p.Ile2687Phe) rs1391973492
NM_004370.5(COL12A1):c.8276G>A (p.Gly2759Asp) rs1554168599
NM_004370.5(COL12A1):c.8336G>A (p.Arg2779His)
NM_004370.5(COL12A1):c.8361_8378delCCAGGGTCCTCCAGGCCC (p.Pro2791_Pro2796del)
NM_004370.5(COL12A1):c.8369C>T (p.Pro2790Leu) rs755342579
NM_004370.5(COL12A1):c.8465G>A (p.Arg2822Gln)
NM_004370.5(COL12A1):c.8474C>A (p.Thr2825Asn) rs1280191331
NM_004370.5(COL12A1):c.848A>T (p.Glu283Val) rs1554188241
NM_004370.5(COL12A1):c.8495C>G (p.Pro2832Arg)
NM_004370.5(COL12A1):c.8501C>G (p.Pro2834Arg)
NM_004370.5(COL12A1):c.8524-3T>C
NM_004370.5(COL12A1):c.8548A>G (p.Met2850Val)
NM_004370.5(COL12A1):c.8751T>A (p.Ser2917Arg)
NM_004370.5(COL12A1):c.8831C>T (p.Pro2944Leu)
NM_004370.5(COL12A1):c.8858C>T (p.Ala2953Val) rs1554166746
NM_004370.5(COL12A1):c.8875C>T (p.Pro2959Ser)
NM_004370.5(COL12A1):c.8885G>C (p.Gly2962Ala)
NM_004370.5(COL12A1):c.9076C>G (p.Pro3026Ala)
NM_004370.5(COL12A1):c.9146G>A (p.Cys3049Tyr)
NM_004370.5(COL12A1):c.9187G>A (p.Gly3063Ser)
NM_004370.5(COL12A1):c.922A>T (p.Ile308Phe)
NM_080645.2(COL12A1):c.1796A>G (p.Asn599Ser) rs755536829

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