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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
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.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.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.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.1394_1395del (p.Gly465fs)	rs1272600548
NM_002775.5(HTRA1):c.338C>T (p.Ala113Val)
NM_002775.5(HTRA1):c.806G>A (p.Arg269His)
NM_002775.5(HTRA1):c.879C>A (p.Thr293=)
NM_002775.5(HTRA1):c.888C>G (p.Ile296Met)	rs775112869

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