ClinVar Miner

List of variants reported as likely benign for Temtamy preaxial brachydactyly syndrome by Invitae

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Total variants: 46
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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 0.00049
NM_014918.5(CHSY1):c.2352A>G (p.Lys784=) rs201612305 0.00024
NM_014918.5(CHSY1):c.203C>T (p.Ala68Val) rs780349909 0.00020
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.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.1555C>A (p.Leu519Ile) rs754947736 0.00006
NM_014918.5(CHSY1):c.255C>T (p.Asn85=) rs775018701 0.00002
NM_014918.5(CHSY1):c.756C>T (p.Asp252=) rs145660234 0.00002
NM_014918.5(CHSY1):c.1224T>C (p.Ile408=) rs1463101536 0.00001
NM_014918.5(CHSY1):c.1494T>C (p.Asn498=) rs567994246 0.00001
NM_014918.5(CHSY1):c.51C>T (p.Val17=) rs1192394140 0.00001
NM_014918.5(CHSY1):c.645T>A (p.Gly215=) rs567957962 0.00001
NM_014918.5(CHSY1):c.816+10G>C rs1261634441 0.00001
NM_014918.5(CHSY1):c.1002G>T (p.Leu334=)
NM_014918.5(CHSY1):c.1167C>T (p.Asp389=)
NM_014918.5(CHSY1):c.120G>C (p.Arg40=)
NM_014918.5(CHSY1):c.1213T>C (p.Leu405=)
NM_014918.5(CHSY1):c.1296C>T (p.Ile432=)
NM_014918.5(CHSY1):c.138G>A (p.Glu46=)
NM_014918.5(CHSY1):c.1410C>T (p.His470=)
NM_014918.5(CHSY1):c.1548C>G (p.Pro516=)
NM_014918.5(CHSY1):c.1890C>T (p.Cys630=)
NM_014918.5(CHSY1):c.1926G>A (p.Gln642=)
NM_014918.5(CHSY1):c.2022C>A (p.Pro674=)
NM_014918.5(CHSY1):c.219C>A (p.Pro73=) rs373485537
NM_014918.5(CHSY1):c.2307G>A (p.Ser769=)
NM_014918.5(CHSY1):c.2403A>G (p.Thr801=)
NM_014918.5(CHSY1):c.306C>A (p.Ala102=) rs753652939
NM_014918.5(CHSY1):c.320+20G>C rs2039105249
NM_014918.5(CHSY1):c.417G>A (p.Val139=)
NM_014918.5(CHSY1):c.432G>A (p.Pro144=)
NM_014918.5(CHSY1):c.477C>T (p.His159=)
NM_014918.5(CHSY1):c.48C>A (p.Leu16=)
NM_014918.5(CHSY1):c.582C>G (p.Leu194=) rs1475060155
NM_014918.5(CHSY1):c.813T>C (p.Tyr271=)
NM_014918.5(CHSY1):c.816+10G>T
NM_014918.5(CHSY1):c.817-11T>C
NM_014918.5(CHSY1):c.817-6T>G

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