List of variants in gene SLX4 reported by Ambry Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 96

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HGVS	dbSNP	gnomAD frequency
NM_032444.4(SLX4):c.2756C>T (p.Thr919Ile)	rs145533919	0.00052
NM_032444.4(SLX4):c.1584C>G (p.Ser528Arg)	rs139865448	0.00045
NM_032444.4(SLX4):c.4384G>T (p.Ala1462Ser)	rs138484365	0.00034
NM_032444.4(SLX4):c.2335G>A (p.Val779Met)	rs768126392	0.00011
NM_032444.4(SLX4):c.4903A>G (p.Lys1635Glu)	rs140417509	0.00011
NM_032444.4(SLX4):c.2749G>A (p.Ala917Thr)	rs148428054	0.00006
NM_032444.4(SLX4):c.3068C>A (p.Ala1023Asp)	rs769271628	0.00006
NM_032444.4(SLX4):c.5441G>A (p.Arg1814His)	rs201036767	0.00006
NM_032444.4(SLX4):c.1990C>A (p.Pro664Thr)	rs759223029	0.00005
NM_032444.4(SLX4):c.3701C>T (p.Ala1234Val)	rs186036075	0.00005
NM_032444.4(SLX4):c.3190G>A (p.Gly1064Arg)	rs142079276	0.00004
NM_032444.4(SLX4):c.3668C>T (p.Pro1223Leu)	rs376133540	0.00004
NM_032444.4(SLX4):c.4097G>A (p.Arg1366His)	rs375108717	0.00004
NM_032444.4(SLX4):c.4267A>G (p.Ile1423Val)	rs953994627	0.00004
NM_032444.4(SLX4):c.4394G>A (p.Arg1465His)	rs757128699	0.00004
NM_032444.4(SLX4):c.1573C>T (p.Arg525Cys)	rs143831403	0.00003
NM_032444.4(SLX4):c.4406C>T (p.Ser1469Phe)	rs759045352	0.00003
NM_032444.4(SLX4):c.4889C>A (p.Ala1630Asp)	rs886051977	0.00003
NM_032444.4(SLX4):c.5263G>T (p.Ala1755Ser)	rs780678810	0.00003
NM_032444.4(SLX4):c.709C>T (p.Arg237Trp)	rs199912910	0.00003
NM_032444.4(SLX4):c.1255G>A (p.Glu419Lys)	rs941244697	0.00002
NM_032444.4(SLX4):c.1994A>G (p.Asp665Gly)	rs748574820	0.00002
NM_032444.4(SLX4):c.2767A>T (p.Met923Leu)	rs573280243	0.00002
NM_032444.4(SLX4):c.3166C>A (p.Leu1056Met)	rs773890423	0.00002
NM_032444.4(SLX4):c.802G>A (p.Val268Met)	rs1060501798	0.00002
NM_032444.4(SLX4):c.111C>A (p.Ser37Arg)	rs188729744	0.00001
NM_032444.4(SLX4):c.1537T>C (p.Trp513Arg)	rs769495113	0.00001
NM_032444.4(SLX4):c.1597G>C (p.Gly533Arg)	rs200437227	0.00001
NM_032444.4(SLX4):c.1739G>A (p.Ser580Asn)	rs755653940	0.00001
NM_032444.4(SLX4):c.247G>A (p.Gly83Ser)	rs200319106	0.00001
NM_032444.4(SLX4):c.2606G>C (p.Arg869Thr)	rs779039237	0.00001
NM_032444.4(SLX4):c.3370A>G (p.Ile1124Val)	rs766081510	0.00001
NM_032444.4(SLX4):c.3706T>C (p.Trp1236Arg)	rs760493361	0.00001
NM_032444.4(SLX4):c.4019A>G (p.His1340Arg)	rs776760390	0.00001
NM_032444.4(SLX4):c.424G>C (p.Gly142Arg)	rs773117024	0.00001
NM_032444.4(SLX4):c.4546G>A (p.Gly1516Arg)	rs775915651	0.00001
NM_032444.4(SLX4):c.4607C>T (p.Ala1536Val)	rs759939338	0.00001
NM_032444.4(SLX4):c.4691C>G (p.Pro1564Arg)	rs1478218856	0.00001
NM_032444.4(SLX4):c.4939G>A (p.Ala1647Thr)	rs2040464512	0.00001
NM_032444.4(SLX4):c.941A>G (p.His314Arg)	rs1274906202	0.00001
NM_032444.4(SLX4):c.1014T>G (p.Ile338Met)
NM_032444.4(SLX4):c.1084G>C (p.Val362Leu)	rs2040721687
NM_032444.4(SLX4):c.1085T>C (p.Val362Ala)
NM_032444.4(SLX4):c.1208G>A (p.Ser403Asn)
NM_032444.4(SLX4):c.1289C>T (p.Ser430Leu)
NM_032444.4(SLX4):c.1312G>A (p.Val438Ile)
NM_032444.4(SLX4):c.1598G>A (p.Gly533Asp)
NM_032444.4(SLX4):c.1624A>G (p.Met542Val)
NM_032444.4(SLX4):c.1663G>C (p.Val555Leu)
NM_032444.4(SLX4):c.1672C>T (p.Arg558Trp)	rs372264472
NM_032444.4(SLX4):c.1726C>T (p.His576Tyr)
NM_032444.4(SLX4):c.2246G>T (p.Arg749Leu)
NM_032444.4(SLX4):c.2264T>A (p.Leu755His)
NM_032444.4(SLX4):c.2347G>A (p.Val783Ile)	rs771580450
NM_032444.4(SLX4):c.2347G>C (p.Val783Leu)
NM_032444.4(SLX4):c.2473G>T (p.Asp825Tyr)
NM_032444.4(SLX4):c.2553G>A (p.Met851Ile)	rs2040587848
NM_032444.4(SLX4):c.2591T>C (p.Leu864Pro)
NM_032444.4(SLX4):c.2684A>C (p.Gln895Pro)
NM_032444.4(SLX4):c.2719G>C (p.Glu907Gln)	rs1408881754
NM_032444.4(SLX4):c.27G>C (p.Gln9His)
NM_032444.4(SLX4):c.2904G>C (p.Glu968Asp)
NM_032444.4(SLX4):c.295A>G (p.Lys99Glu)
NM_032444.4(SLX4):c.299C>T (p.Thr100Ile)
NM_032444.4(SLX4):c.3005G>T (p.Ser1002Ile)
NM_032444.4(SLX4):c.3013G>A (p.Glu1005Lys)	rs746178364
NM_032444.4(SLX4):c.313G>A (p.Gly105Ser)
NM_032444.4(SLX4):c.3219G>C (p.Leu1073Phe)
NM_032444.4(SLX4):c.3721C>A (p.Arg1241Ser)
NM_032444.4(SLX4):c.3806G>A (p.Cys1269Tyr)
NM_032444.4(SLX4):c.3847G>A (p.Ala1283Thr)
NM_032444.4(SLX4):c.4002C>A (p.Asp1334Glu)	rs201826765
NM_032444.4(SLX4):c.4126C>T (p.His1376Tyr)
NM_032444.4(SLX4):c.420G>T (p.Glu140Asp)	rs753015235
NM_032444.4(SLX4):c.4219C>T (p.His1407Tyr)
NM_032444.4(SLX4):c.4270G>A (p.Asp1424Asn)
NM_032444.4(SLX4):c.4280G>C (p.Cys1427Ser)
NM_032444.4(SLX4):c.4400G>C (p.Cys1467Ser)
NM_032444.4(SLX4):c.445G>A (p.Asp149Asn)
NM_032444.4(SLX4):c.4472A>G (p.Lys1491Arg)
NM_032444.4(SLX4):c.4553A>G (p.Glu1518Gly)
NM_032444.4(SLX4):c.4742T>C (p.Phe1581Ser)
NM_032444.4(SLX4):c.4804A>C (p.Thr1602Pro)	rs756198942
NM_032444.4(SLX4):c.4852C>G (p.Gln1618Glu)
NM_032444.4(SLX4):c.4862T>G (p.Leu1621Trp)
NM_032444.4(SLX4):c.4921G>A (p.Val1641Ile)
NM_032444.4(SLX4):c.5027C>T (p.Thr1676Ile)	rs377544881
NM_032444.4(SLX4):c.5102A>G (p.Glu1701Gly)
NM_032444.4(SLX4):c.5246C>T (p.Ala1749Val)
NM_032444.4(SLX4):c.524A>C (p.Glu175Ala)
NM_032444.4(SLX4):c.5293G>A (p.Ala1765Thr)
NM_032444.4(SLX4):c.5408C>T (p.Thr1803Ile)
NM_032444.4(SLX4):c.5483A>G (p.Lys1828Arg)
NM_032444.4(SLX4):c.822G>C (p.Gln274His)	rs1367038373
NM_032444.4(SLX4):c.919A>C (p.Asn307His)
NM_032444.4(SLX4):c.976C>G (p.Leu326Val)

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