ClinVar Miner

List of variants reported as likely benign for Temtamy preaxial brachydactyly syndrome by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_014918.5(CHSY1):c.612G>A (p.Thr204=) rs145031427 0.00104
NM_014918.5(CHSY1):c.1957C>G (p.Gln653Glu) rs150075110 0.00088
NM_014918.5(CHSY1):c.21C>T (p.Arg7=) rs751409111 0.00086
NM_014918.5(CHSY1):c.261C>T (p.Leu87=) rs369927768 0.00054
NM_014918.5(CHSY1):c.2040C>G (p.Ala680=) rs145837770 0.00045
NM_014918.5(CHSY1):c.2352A>G (p.Lys784=) rs201612305 0.00023
NM_014918.5(CHSY1):c.477C>T (p.His159=) rs140045066 0.00023
NM_014918.5(CHSY1):c.2403A>G (p.Thr801=) rs149763468 0.00019
NM_014918.5(CHSY1):c.120G>C (p.Arg40=) rs772693719 0.00016
NM_014918.5(CHSY1):c.798G>A (p.Gln266=) rs149739984 0.00014
NM_014918.5(CHSY1):c.843C>T (p.Tyr281=) rs181121069 0.00011
NM_014918.5(CHSY1):c.489G>A (p.Lys163=) rs146047900 0.00010
NM_014918.5(CHSY1):c.1548C>G (p.Pro516=) rs756532940 0.00009
NM_014918.5(CHSY1):c.1893C>T (p.Asp631=) rs368276647 0.00009
NM_014918.5(CHSY1):c.519C>T (p.Asp173=) rs143062356 0.00009
NM_014918.5(CHSY1):c.135C>T (p.Pro45=) rs921119348 0.00008
NM_014918.5(CHSY1):c.432G>A (p.Pro144=) rs577569646 0.00007
NM_014918.5(CHSY1):c.1555C>A (p.Leu519Ile) rs754947736 0.00006
NM_014918.5(CHSY1):c.813T>C (p.Tyr271=) rs574572282 0.00005
NM_014918.5(CHSY1):c.1167C>T (p.Asp389=) rs139894017 0.00004
NM_014918.5(CHSY1):c.42C>T (p.Leu14=) rs1045621086 0.00004
NM_014918.5(CHSY1):c.1002G>T (p.Leu334=) rs140051393 0.00003
NM_014918.5(CHSY1):c.1410C>T (p.His470=) rs750435215 0.00003
NM_014918.5(CHSY1):c.756C>T (p.Asp252=) rs145660234 0.00003
NM_014918.5(CHSY1):c.255C>T (p.Asn85=) rs775018701 0.00002
NM_014918.5(CHSY1):c.645T>A (p.Gly215=) rs567957962 0.00002
NM_014918.5(CHSY1):c.1224T>C (p.Ile408=) rs1463101536 0.00001
NM_014918.5(CHSY1):c.138G>A (p.Glu46=) rs1281451817 0.00001
NM_014918.5(CHSY1):c.1494T>C (p.Asn498=) rs567994246 0.00001
NM_014918.5(CHSY1):c.203C>T (p.Ala68Val) rs780349909 0.00001
NM_014918.5(CHSY1):c.2307G>A (p.Ser769=) rs532511668 0.00001
NM_014918.5(CHSY1):c.51C>T (p.Val17=) rs1192394140 0.00001
NM_014918.5(CHSY1):c.816+10G>C rs1261634441 0.00001
NM_014918.5(CHSY1):c.1213T>C (p.Leu405=) rs2141236117
NM_014918.5(CHSY1):c.1296C>T (p.Ile432=) rs373244097
NM_014918.5(CHSY1):c.1470A>G (p.Ala490=)
NM_014918.5(CHSY1):c.1482C>T (p.Ala494=)
NM_014918.5(CHSY1):c.1542C>T (p.Leu514=)
NM_014918.5(CHSY1):c.1614T>C (p.Ile538=)
NM_014918.5(CHSY1):c.174C>T (p.Ala58=)
NM_014918.5(CHSY1):c.1890C>T (p.Cys630=) rs140710779
NM_014918.5(CHSY1):c.1926G>A (p.Gln642=) rs2038213821
NM_014918.5(CHSY1):c.2022C>A (p.Pro674=) rs747770781
NM_014918.5(CHSY1):c.216G>T (p.Pro72=)
NM_014918.5(CHSY1):c.219C>A (p.Pro73=) rs373485537
NM_014918.5(CHSY1):c.306C>A (p.Ala102=) rs753652939
NM_014918.5(CHSY1):c.30C>T (p.Leu10=)
NM_014918.5(CHSY1):c.320+20G>C rs2039105249
NM_014918.5(CHSY1):c.417G>A (p.Val139=) rs2505399907
NM_014918.5(CHSY1):c.48C>A (p.Leu16=) rs762682745
NM_014918.5(CHSY1):c.516T>C (p.Asp172=)
NM_014918.5(CHSY1):c.564G>A (p.Leu188=)
NM_014918.5(CHSY1):c.582C>G (p.Leu194=) rs1475060155
NM_014918.5(CHSY1):c.780G>A (p.Arg260=)
NM_014918.5(CHSY1):c.816+10G>T rs1261634441
NM_014918.5(CHSY1):c.817-11T>C rs1203422480
NM_014918.5(CHSY1):c.817-6T>G rs2038238344

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