List of variants in gene CYP7A1 reported as uncertain significance by Eurofins NTD LLC (GA)

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: 39

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HGVS	dbSNP	gnomAD frequency
NM_000780.4(CYP7A1):c.779G>T (p.Arg260Leu)	rs139396617	0.00061
NM_000780.4(CYP7A1):c.578C>T (p.Thr193Ile)	rs72647413	0.00051
NM_000780.4(CYP7A1):c.937G>A (p.Glu313Lys)	rs140288234	0.00048
NM_000780.4(CYP7A1):c.123C>T (p.Tyr41=)	rs150351766	0.00037
NM_000780.4(CYP7A1):c.108T>A (p.Asn36Lys)	rs138113674	0.00016
NM_000780.4(CYP7A1):c.1238_1239del (p.Leu413fs)	rs766284289	0.00013
NM_000780.4(CYP7A1):c.1357G>A (p.Glu453Lys)	rs755342899	0.00010
NM_000780.4(CYP7A1):c.1447C>T (p.Arg483Trp)	rs143725488	0.00006
NM_000780.4(CYP7A1):c.1292A>G (p.Lys431Arg)	rs151122002	0.00005
NM_000780.4(CYP7A1):c.1409T>C (p.Ile470Thr)	rs779269724	0.00004
NM_000780.4(CYP7A1):c.318G>A (p.Ala106=)	rs200839929	0.00004
NM_000780.4(CYP7A1):c.317C>A (p.Ala106Glu)	rs750214616	0.00003
NM_000780.4(CYP7A1):c.427G>A (p.Glu143Lys)	rs886043760	0.00003
NM_000780.4(CYP7A1):c.322G>A (p.Ala108Thr)	rs922546527	0.00002
NM_000780.4(CYP7A1):c.704G>A (p.Arg235Gln)	rs141299456	0.00002
NM_000780.4(CYP7A1):c.908+6T>G	rs373514835	0.00002
NM_000780.4(CYP7A1):c.1003T>C (p.Leu335=)	rs886044203	0.00001
NM_000780.4(CYP7A1):c.157C>T (p.Leu53Phe)	rs189424028	0.00001
NM_000780.4(CYP7A1):c.165C>T (p.Phe55=)	rs1205992032	0.00001
NM_000780.4(CYP7A1):c.423C>G (p.Leu141=)	rs1448734327	0.00001
NM_000780.4(CYP7A1):c.490G>A (p.Ala164Thr)	rs766893445	0.00001
NM_000780.4(CYP7A1):c.583C>T (p.Arg195Trp)	rs771901033	0.00001
NM_000780.4(CYP7A1):c.763G>A (p.Glu255Lys)	rs1183620680	0.00001
NM_000780.4(CYP7A1):c.988G>A (p.Gly330Ser)	rs1199690733	0.00001
NM_000780.4(CYP7A1):c.*5A>G	rs1554557963
NM_000780.4(CYP7A1):c.6_7delinsAAT	rs1563481970
NM_000780.4(CYP7A1):c.124C>T (p.Leu42=)	rs1429939198
NM_000780.4(CYP7A1):c.133G>T (p.Ala45Ser)	rs1554558878
NM_000780.4(CYP7A1):c.1382T>C (p.Met461Thr)	rs1554558012
NM_000780.4(CYP7A1):c.1384C>G (p.Leu462Val)	rs779580378
NM_000780.4(CYP7A1):c.1473A>G (p.Pro491=)	rs888728353
NM_000780.4(CYP7A1):c.191G>A (p.Gly64Asp)	rs1563484926
NM_000780.4(CYP7A1):c.206G>T (p.Cys69Phe)	rs1554558853
NM_000780.4(CYP7A1):c.346C>T (p.Pro116Ser)	rs1563484457
NM_000780.4(CYP7A1):c.498G>A (p.Trp166Ter)	rs1354168442
NM_000780.4(CYP7A1):c.818T>C (p.Leu273Pro)	rs778199686
NM_000780.4(CYP7A1):c.843G>A (p.Val281=)	rs1554558657
NM_000780.4(CYP7A1):c.900A>G (p.Gln300=)	rs1554558646
NM_000780.4(CYP7A1):c.909-4A>C	rs886044353

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