ClinVar Miner

List of variants in gene CHSY1 reported as uncertain significance for congenital limb malformation

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_014918.5(CHSY1):c.698G>A (p.Arg233Gln) rs146924321 0.00049
NM_014918.5(CHSY1):c.1328A>G (p.Tyr443Cys) rs75034086 0.00027
NM_014918.5(CHSY1):c.479A>T (p.Tyr160Phe) rs778545156 0.00026
NM_014918.5(CHSY1):c.2335G>A (p.Glu779Lys) rs370264590 0.00021
NM_014918.5(CHSY1):c.1600A>T (p.Ile534Leu) rs141305214 0.00017
NM_014918.5(CHSY1):c.1772G>A (p.Arg591His) rs148790468 0.00017
NM_014918.5(CHSY1):c.730C>T (p.Arg244Trp) rs74040399 0.00014
NM_014918.5(CHSY1):c.787G>T (p.Ala263Ser) rs752265345 0.00011
NM_014918.5(CHSY1):c.973T>A (p.Ser325Thr) rs765848875 0.00011
NM_014918.5(CHSY1):c.539G>A (p.Arg180His) rs770812991 0.00009
NM_014918.5(CHSY1):c.1718A>G (p.Asn573Ser) rs372414536 0.00004
NM_014918.5(CHSY1):c.697C>T (p.Arg233Trp) rs758494719 0.00004
NM_014918.5(CHSY1):c.1198G>A (p.Ala400Thr) rs573681382 0.00003
NM_014918.5(CHSY1):c.2293G>A (p.Gly765Arg) rs1315448986 0.00003
NM_014918.5(CHSY1):c.1972A>G (p.Ile658Val) rs570222707 0.00002
NM_014918.5(CHSY1):c.685C>T (p.Arg229Trp) rs757906025 0.00002
NM_014918.5(CHSY1):c.686G>A (p.Arg229Gln) rs757665488 0.00002
NM_014918.5(CHSY1):c.988C>T (p.Arg330Cys) rs768914522 0.00002
NM_014918.5(CHSY1):c.1109G>A (p.Arg370Gln) rs769801559 0.00001
NM_014918.5(CHSY1):c.1312C>T (p.Arg438Trp) rs773396835 0.00001
NM_014918.5(CHSY1):c.1468G>T (p.Ala490Ser) rs756263767 0.00001
NM_014918.5(CHSY1):c.1552C>G (p.Gln518Glu) rs1274574182 0.00001
NM_014918.5(CHSY1):c.793G>A (p.Val265Met) rs372381623 0.00001
NM_014918.5(CHSY1):c.965G>A (p.Arg322His) rs140855609 0.00001
NM_014918.5(CHSY1):c.966C>T (p.Arg322=) rs911382649 0.00001
NM_014918.5(CHSY1):c.989G>A (p.Arg330His) rs749508854 0.00001
NM_014918.5(CHSY1):c.1006C>T (p.Arg336Cys) rs1320280755
NM_014918.5(CHSY1):c.1111G>A (p.Glu371Lys) rs1596419433
NM_014918.5(CHSY1):c.1183A>G (p.Arg395Gly)
NM_014918.5(CHSY1):c.1267A>G (p.Arg423Gly) rs370806474
NM_014918.5(CHSY1):c.1339T>C (p.Tyr447His)
NM_014918.5(CHSY1):c.1412C>T (p.Ala471Val)
NM_014918.5(CHSY1):c.1472A>G (p.Gln491Arg)
NM_014918.5(CHSY1):c.1492A>T (p.Asn498Tyr)
NM_014918.5(CHSY1):c.1670C>T (p.Thr557Met)
NM_014918.5(CHSY1):c.1689G>C (p.Gln563His)
NM_014918.5(CHSY1):c.1736A>G (p.Asp579Gly)
NM_014918.5(CHSY1):c.1865A>G (p.Asn622Ser)
NM_014918.5(CHSY1):c.2029A>G (p.Asn677Asp) rs747715647
NM_014918.5(CHSY1):c.2119G>A (p.Gly707Ser) rs773030000
NM_014918.5(CHSY1):c.2120G>T (p.Gly707Val)
NM_014918.5(CHSY1):c.2219T>C (p.Val740Ala)
NM_014918.5(CHSY1):c.2273A>G (p.Lys758Arg) rs2038208535
NM_014918.5(CHSY1):c.2294G>C (p.Gly765Ala)
NM_014918.5(CHSY1):c.2320A>G (p.Thr774Ala) rs556065115
NM_014918.5(CHSY1):c.2377A>G (p.Ser793Gly) rs960887600
NM_014918.5(CHSY1):c.2395G>T (p.Val799Leu)
NM_014918.5(CHSY1):c.404C>A (p.Pro135Gln)
NM_014918.5(CHSY1):c.469C>G (p.His157Asp)
NM_014918.5(CHSY1):c.469C>T (p.His157Tyr) rs2141275520
NM_014918.5(CHSY1):c.535G>T (p.Asp179Tyr) rs138311444
NM_014918.5(CHSY1):c.574G>A (p.Glu192Lys)
NM_014918.5(CHSY1):c.576G>C (p.Glu192Asp)
NM_014918.5(CHSY1):c.580C>T (p.Leu194Phe)
NM_014918.5(CHSY1):c.691G>T (p.Val231Leu) rs2038928981
NM_014918.5(CHSY1):c.727C>G (p.Leu243Val)
NM_014918.5(CHSY1):c.949A>G (p.Ser317Gly) rs2038235884
NM_014918.5(CHSY1):c.971T>C (p.Ile324Thr) rs1596419735
NM_014918.5(CHSY1):c.986A>G (p.His329Arg) rs774636195

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