ClinVar Miner

List of variants in gene HTRA1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_002775.5(HTRA1):c.879C>T (p.Thr293=) rs149294320 0.00207
NM_002775.5(HTRA1):c.12G>T (p.Pro4=) rs761008513 0.00021
NM_002775.5(HTRA1):c.245C>G (p.Pro82Arg) rs541204010 0.00021
NM_002775.5(HTRA1):c.451C>A (p.Gln151Lys) rs754645487 0.00019
NM_002775.5(HTRA1):c.1333G>A (p.Ala445Thr) rs371279115 0.00013
NM_002775.5(HTRA1):c.1296C>T (p.Asp432=) rs368158443 0.00004
NM_002775.5(HTRA1):c.144G>T (p.Pro48=) rs565162637 0.00004
NM_002775.5(HTRA1):c.92C>T (p.Ala31Val) rs1381357974 0.00003
NM_002775.5(HTRA1):c.957C>T (p.Thr319=) rs373287445 0.00003
NM_002775.5(HTRA1):c.1423C>G (p.Pro475Ala) rs769157908 0.00002
NM_002775.5(HTRA1):c.1130T>A (p.Ile377Asn) rs1384480576 0.00001
NM_002775.5(HTRA1):c.1425C>T (p.Pro475=) rs779158785 0.00001
NM_002775.5(HTRA1):c.323G>T (p.Gly108Val) rs1194513452 0.00001
NM_002775.5(HTRA1):c.518C>T (p.Ala173Val) rs370751496 0.00001
NM_002775.5(HTRA1):c.573-8G>A rs779261850 0.00001
NM_002775.5(HTRA1):c.589C>T (p.Arg197Ter) rs1438223502 0.00001
NM_002775.5(HTRA1):c.835G>A (p.Val279Met) rs745305935 0.00001
NC_000010.11:g.122458640del rs2133901631
NM_002775.5(HTRA1):c.112C>G (p.Pro38Ala)
NM_002775.5(HTRA1):c.1230A>C (p.Ser410=)
NM_002775.5(HTRA1):c.126G>A (p.Glu42=) rs2133905058
NM_002775.5(HTRA1):c.1394_1395del (p.Gly465fs) rs1272600548
NM_002775.5(HTRA1):c.184_185del (p.Cys62fs)
NM_002775.5(HTRA1):c.272dup (p.Pro92fs)
NM_002775.5(HTRA1):c.338C>T (p.Ala113Val)
NM_002775.5(HTRA1):c.33_34insTCC (p.Leu11_Leu12insSer) rs541533723
NM_002775.5(HTRA1):c.34C>T (p.Leu12=) rs996483189
NM_002775.5(HTRA1):c.451C>T (p.Gln151Ter) rs754645487
NM_002775.5(HTRA1):c.523G>C (p.Val175Leu)
NM_002775.5(HTRA1):c.806G>A (p.Arg269His)
NM_002775.5(HTRA1):c.847G>A (p.Gly283Arg) rs766433250
NM_002775.5(HTRA1):c.84C>A (p.Gly28=)
NM_002775.5(HTRA1):c.854C>T (p.Pro285Leu) rs587776446
NM_002775.5(HTRA1):c.879C>A (p.Thr293=)
NM_002775.5(HTRA1):c.888C>G (p.Ile296Met) rs775112869
NM_002775.5(HTRA1):c.990C>A (p.Gly330=)

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