ClinVar Miner

List of variants in gene CHSY1 reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_014918.5(CHSY1):c.1325T>C (p.Met442Thr) rs148193087 0.00329
NM_014918.5(CHSY1):c.2088G>A (p.Thr696=) rs150245745 0.00223
NM_014918.5(CHSY1):c.1602A>T (p.Ile534=) rs146586939 0.00089
NM_014918.5(CHSY1):c.1218C>T (p.Asp406=) rs113219895 0.00061
NM_014918.5(CHSY1):c.1772G>A (p.Arg591His) rs148790468 0.00017
NM_014918.5(CHSY1):c.1307A>G (p.Tyr436Cys) rs765634861 0.00011
NM_014918.5(CHSY1):c.489G>A (p.Lys163=) rs146047900 0.00010
NM_014918.5(CHSY1):c.666G>A (p.Gly222=) rs74545602
NM_014918.5(CHSY1):c.730C>A (p.Arg244=) rs74040399
NM_014918.5(CHSY1):c.986A>G (p.His329Arg) rs774636195

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