ClinVar Miner

List of variants in gene COL13A1 studied for congenital myasthenic syndrome

Included ClinVar conditions (53):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001368882.1(COL13A1):c.685-1181A>G rs1227746 0.99612
NM_001368882.1(COL13A1):c.744G>A (p.Thr248=) rs1227747 0.99609
NM_001368882.1(COL13A1):c.258G>A (p.Thr86=) rs10998973 0.49201
NM_001368882.1(COL13A1):c.463-4G>A rs2395272 0.21946
NM_001368882.1(COL13A1):c.525A>C (p.Gly175=) rs11816811 0.10710
NM_001368882.1(COL13A1):c.1330-3C>T rs80290126 0.04374
NM_001368882.1(COL13A1):c.1285-1G>C rs763197055 0.00003
NM_001368882.1(COL13A1):c.1610A>G (p.Lys537Arg) rs1015279176 0.00001
NM_001368882.1(COL13A1):c.1859G>A (p.Arg620His) rs762247152 0.00001
NM_001368882.1(COL13A1):c.709C>T (p.Arg237Ter) rs769673346 0.00001
NM_001368882.1(COL13A1):c.750+18G>T rs757550207 0.00001
NM_001130103.1(COL13A1):c.523-1delG rs864309663
NM_001368882.1(COL13A1):c.1026+1G>A rs1480562957
NM_001368882.1(COL13A1):c.1138C>T (p.Gln380Ter) rs2064735979
NM_001368882.1(COL13A1):c.1206del (p.Leu403fs) rs864309662
NM_001368882.1(COL13A1):c.1559G>A (p.Gly520Asp) rs2065959942
NM_001368882.1(COL13A1):c.1619del (p.Asn540fs) rs2135829327
NM_001368882.1(COL13A1):c.1880G>A (p.Gly627Glu)
NM_001368882.1(COL13A1):c.1884_1886delinsCCCT (p.Ser629fs) rs2136077497
NM_001368882.1(COL13A1):c.2022+1G>C
NM_001368882.1(COL13A1):c.2040C>T (p.Pro680=) rs555259357
NM_001368882.1(COL13A1):c.2141_2142insCT (p.Leu715fs)
NM_001368882.1(COL13A1):c.457G>T (p.Glu153Ter)
NM_001368882.1(COL13A1):c.513del (p.Gly172fs) rs1564932829
NM_001368882.1(COL13A1):c.514-4del rs35268667
NM_001368882.1(COL13A1):c.549+5G>A rs2134524471
NM_001368882.1(COL13A1):c.567C>A (p.Asp189Glu) rs202115626
NM_001368882.1(COL13A1):c.576+5G>A rs2060807560
NM_001368882.1(COL13A1):c.648del (p.Gly217fs) rs763281993
NM_001368882.1(COL13A1):c.675C>G (p.Tyr225Ter) rs2134842358
NM_001368882.1(COL13A1):c.685-1164T>C rs1554943789
NM_001368882.1(COL13A1):c.740G>A (p.Arg247Gln)
NM_001368882.1(COL13A1):c.799C>G (p.Pro267Ala)
NM_001368882.1(COL13A1):c.803del (p.Pro268fs)
NM_001368882.1(COL13A1):c.984C>G (p.Ala328=) rs2274181
NM_001368882.1(COL13A1):c.999+5G>A rs200322111

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