List of variants in gene SON reported 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
		ClinVar version:

Total variants: 96

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HGVS	dbSNP	gnomAD frequency
NM_138927.4(SON):c.4122T>C (p.Thr1374=)	rs148012048	0.00810
NM_138927.4(SON):c.2691G>A (p.Ala897=)	rs61746013	0.00561
NM_138927.4(SON):c.5211A>G (p.Leu1737=)	rs140041107	0.00435
NM_138927.4(SON):c.2364T>C (p.Thr788=)	rs140574025	0.00332
NM_138927.4(SON):c.2271G>A (p.Ala757=)	rs147224438	0.00303
NM_138927.4(SON):c.2244C>G (p.Ser748=)	rs138945763	0.00291
NM_138927.4(SON):c.5754T>C (p.Val1918=)	rs150122403	0.00291
NM_138927.4(SON):c.5280T>C (p.Asp1760=)	rs77137462	0.00278
NM_138927.4(SON):c.2080A>G (p.Thr694Ala)	rs141608426	0.00272
NM_138927.4(SON):c.2814T>G (p.Gly938=)	rs139823990	0.00240
NM_138927.4(SON):c.6768+12T>G	rs201413088	0.00215
NM_138927.4(SON):c.3326C>T (p.Ala1109Val)	rs144188863	0.00203
NM_138927.4(SON):c.1007C>T (p.Ala336Val)	rs149343017	0.00158
NM_138927.4(SON):c.1664C>T (p.Thr555Met)	rs13049658	0.00135
NM_138927.4(SON):c.978G>A (p.Met326Ile)	rs138817883	0.00123
NM_138927.4(SON):c.3726A>G (p.Ser1242=)	rs148591619	0.00109
NM_138927.4(SON):c.4399A>G (p.Ile1467Val)	rs142751481	0.00095
NM_138927.4(SON):c.4851A>G (p.Ala1617=)	rs146914239	0.00089
NM_138927.4(SON):c.3012T>C (p.Ala1004=)	rs148794591	0.00088
NM_138927.4(SON):c.5964T>C (p.Pro1988=)	rs139304331	0.00070
NM_138927.4(SON):c.497C>T (p.Ala166Val)	rs140389869	0.00068
NM_138927.4(SON):c.4037C>T (p.Pro1346Leu)	rs144767307	0.00041
NM_138927.4(SON):c.2661G>A (p.Ala887=)	rs117188819	0.00036
NM_138927.4(SON):c.3039C>T (p.Tyr1013=)	rs150871748	0.00026
NM_138927.4(SON):c.2241A>T (p.Ala747=)	rs189178754	0.00024
NM_138927.4(SON):c.788T>C (p.Val263Ala)	rs201714133	0.00015
NM_138927.4(SON):c.1670C>T (p.Ala557Val)	rs201936865	0.00013
NM_138927.4(SON):c.3729G>A (p.Glu1243=)	rs558620447	0.00011
NM_138927.4(SON):c.1329G>A (p.Val443=)	rs767559708	0.00009
NM_138927.4(SON):c.4991T>C (p.Ile1664Thr)	rs764307070	0.00009
NM_138927.4(SON):c.1414C>T (p.Pro472Ser)	rs767649909	0.00007
NM_138927.4(SON):c.4878T>C (p.Tyr1626=)	rs367641702	0.00004
NM_138927.4(SON):c.5170A>G (p.Asn1724Asp)	rs372853725	0.00003
NM_138927.4(SON):c.1390G>A (p.Glu464Lys)	rs763404313	0.00002
NM_138927.4(SON):c.2427C>T (p.Ser809=)	rs749767284	0.00002
NM_138927.4(SON):c.3247A>G (p.Met1083Val)	rs371537268	0.00002
NM_138927.4(SON):c.3355A>G (p.Thr1119Ala)	rs751576215	0.00002
NM_138927.4(SON):c.3818A>G (p.His1273Arg)	rs770797378	0.00002
NM_138927.4(SON):c.3864T>G (p.Thr1288=)	rs151242933	0.00001
NM_138927.4(SON):c.5950C>T (p.Arg1984Trp)	rs1312220322	0.00001
NM_138927.4(SON):c.1085C>G (p.Pro362Arg)
NM_138927.4(SON):c.1119G>A (p.Gln373=)
NM_138927.4(SON):c.1125G>A (p.Ser375=)
NM_138927.4(SON):c.1171A>G (p.Met391Val)
NM_138927.4(SON):c.138G>A (p.Ala46=)
NM_138927.4(SON):c.1596G>A (p.Thr532=)
NM_138927.4(SON):c.222T>C (p.Asp74=)
NM_138927.4(SON):c.2281A>G (p.Met761Val)
NM_138927.4(SON):c.2499C>G (p.Ser833=)
NM_138927.4(SON):c.2727dup (p.Ser910fs)	rs2085805732
NM_138927.4(SON):c.2913G>A (p.Arg971=)
NM_138927.4(SON):c.3051G>T (p.Met1017Ile)
NM_138927.4(SON):c.3299A>G (p.Asp1100Gly)	rs1601264075
NM_138927.4(SON):c.3318G>A (p.Ser1106=)
NM_138927.4(SON):c.3354T>C (p.Tyr1118=)
NM_138927.4(SON):c.3627G>A (p.Ser1209=)
NM_138927.4(SON):c.3688_3741dup (p.Tyr1230_Thr1247dup)	rs1569055881
NM_138927.4(SON):c.3897A>C (p.Ala1299=)
NM_138927.4(SON):c.4090G>A (p.Ala1364Thr)
NM_138927.4(SON):c.4090_4113del (p.Ala1364_Ser1371del)	rs779275354
NM_138927.4(SON):c.4098C>A (p.Thr1366=)
NM_138927.4(SON):c.4119_4142del (p.1370SSTVTVLE[1])
NM_138927.4(SON):c.4132_4155del (p.1370SSTVTVLE[1])	rs776438224
NM_138927.4(SON):c.4165G>A (p.Val1389Met)
NM_138927.4(SON):c.4216C>G (p.Pro1406Ala)
NM_138927.4(SON):c.4342T>A (p.Ser1448Thr)
NM_138927.4(SON):c.4439C>T (p.Ser1480Leu)
NM_138927.4(SON):c.4445_4446del (p.His1482fs)
NM_138927.4(SON):c.4491T>C (p.Ala1497=)
NM_138927.4(SON):c.461C>T (p.Ser154Phe)
NM_138927.4(SON):c.5070G>C (p.Gln1690His)
NM_138927.4(SON):c.5186A>G (p.Asn1729Ser)
NM_138927.4(SON):c.5235T>G (p.Leu1745=)
NM_138927.4(SON):c.5403A>G (p.Glu1801=)
NM_138927.4(SON):c.5496T>G (p.Ser1832=)
NM_138927.4(SON):c.5510G>A (p.Arg1837His)
NM_138927.4(SON):c.5722del (p.Arg1908fs)	rs1601274465
NM_138927.4(SON):c.5733C>T (p.Ser1911=)
NM_138927.4(SON):c.5742C>A (p.Asn1914Lys)
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)	rs886039773
NM_138927.4(SON):c.5865C>A (p.Arg1955=)
NM_138927.4(SON):c.5868CAGCCGCACCCCCAGCCGCCG[1] (p.1957SRTPSRR[3])
NM_138927.4(SON):c.5868CAGCCGCACCCCCAGCCGCCG[3] (p.1957SRTPSRR[5])	rs1462103775
NM_138927.4(SON):c.5885G>A (p.Arg1962His)
NM_138927.4(SON):c.5901C>T (p.Pro1967=)
NM_138927.4(SON):c.5947C>T (p.Arg1983Cys)
NM_138927.4(SON):c.6104G>A (p.Arg2035His)
NM_138927.4(SON):c.657A>G (p.Thr219=)	rs556021439
NM_138927.4(SON):c.6885+4C>T
NM_138927.4(SON):c.7074G>A (p.Gly2358=)
NM_138927.4(SON):c.7152G>A (p.Arg2384=)
NM_138927.4(SON):c.7173A>G (p.Leu2391=)
NM_138927.4(SON):c.7239C>G (p.Ala2413=)
NM_138927.4(SON):c.839A>C (p.Glu280Ala)
NM_138927.4(SON):c.924A>G (p.Val308=)
NM_138927.4(SON):c.925TCA[1] (p.Ser310del)	rs771306589

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