ClinVar Miner

List of variants in gene CHSY1 reported as uncertain significance for Inborn genetic diseases

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_014918.5(CHSY1):c.1229T>C (p.Met410Thr) rs146953247 0.00029
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.973T>A (p.Ser325Thr) rs765848875 0.00011
NM_014918.5(CHSY1):c.539G>A (p.Arg180His) rs770812991 0.00009
NM_014918.5(CHSY1):c.2242C>T (p.Pro748Ser) rs768393362 0.00001
NM_014918.5(CHSY1):c.1006C>T (p.Arg336Cys) rs1320280755
NM_014918.5(CHSY1):c.1059C>G (p.Asp353Glu)
NM_014918.5(CHSY1):c.1085T>C (p.Phe362Ser)
NM_014918.5(CHSY1):c.1168G>A (p.Gly390Ser)
NM_014918.5(CHSY1):c.1411G>A (p.Ala471Thr)
NM_014918.5(CHSY1):c.1484A>G (p.Lys495Arg)
NM_014918.5(CHSY1):c.1492A>T (p.Asn498Tyr)
NM_014918.5(CHSY1):c.1612A>T (p.Ile538Phe)
NM_014918.5(CHSY1):c.1658A>G (p.Asn553Ser)
NM_014918.5(CHSY1):c.1693G>A (p.Val565Ile)
NM_014918.5(CHSY1):c.1702G>A (p.Val568Met)
NM_014918.5(CHSY1):c.1793A>G (p.Asp598Gly)
NM_014918.5(CHSY1):c.1891G>A (p.Asp631Asn)
NM_014918.5(CHSY1):c.2014A>G (p.Lys672Glu)
NM_014918.5(CHSY1):c.2320A>T (p.Thr774Ser)
NM_014918.5(CHSY1):c.825G>C (p.Gln275His)
NM_014918.5(CHSY1):c.962G>A (p.Ser321Asn)
NM_014918.5(CHSY1):c.986A>G (p.His329Arg) rs774636195

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