ClinVar Miner

List of variants in gene CHSY1, LOC130058068 studied for Temtamy preaxial brachydactyly syndrome

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_014918.5(CHSY1):c.303G>C (p.Arg101=) rs7176149 0.24315
NM_014918.5(CHSY1):c.57C>T (p.Gly19=) rs7175303 0.23372
NM_014918.5(CHSY1):c.114C>T (p.Gly38=) rs773533401 0.00813
NM_014918.5(CHSY1):c.39G>A (p.Leu13=) rs764100516 0.00174
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.278C>G (p.Thr93Ser) rs142148989 0.00036
NM_014918.5(CHSY1):c.120G>C (p.Arg40=) rs772693719 0.00016
NM_014918.5(CHSY1):c.209T>G (p.Leu70Arg) rs745978128 0.00015
NM_014918.5(CHSY1):c.320+6C>T rs553473414 0.00009
NM_014918.5(CHSY1):c.135C>T (p.Pro45=) rs921119348 0.00008
NM_014918.5(CHSY1):c.42C>T (p.Leu14=) rs1045621086 0.00004
NM_014918.5(CHSY1):c.253A>G (p.Asn85Asp) rs762384442 0.00003
NM_014918.5(CHSY1):c.255C>T (p.Asn85=) rs775018701 0.00002
NM_014918.5(CHSY1):c.49G>A (p.Val17Ile) rs1421037190 0.00002
NM_014918.5(CHSY1):c.138G>A (p.Glu46=) rs1281451817 0.00001
NM_014918.5(CHSY1):c.182C>T (p.Ala61Val) rs1291373789 0.00001
NM_014918.5(CHSY1):c.191A>C (p.Asp64Ala) rs2039108011 0.00001
NM_014918.5(CHSY1):c.203C>T (p.Ala68Val) rs780349909 0.00001
NM_014918.5(CHSY1):c.51C>T (p.Val17=) rs1192394140 0.00001
NM_014918.5(CHSY1):c.94T>C (p.Ser32Pro) rs760263900 0.00001
NM_014918.5(CHSY1):c.110C>T (p.Ala37Val)
NM_014918.5(CHSY1):c.14del (p.Gly5fs) rs1567112402
NM_014918.5(CHSY1):c.151G>A (p.Gly51Arg) rs1242714306
NM_014918.5(CHSY1):c.158C>T (p.Ala53Val) rs2039108667
NM_014918.5(CHSY1):c.174C>T (p.Ala58=)
NM_014918.5(CHSY1):c.179_190dup (p.Gly60_Gly63dup) rs1555437965
NM_014918.5(CHSY1):c.189_200dup (p.Gly67_Ala68insAspAlaArgGly)
NM_014918.5(CHSY1):c.205C>T (p.Gln69Ter) rs387906984
NM_014918.5(CHSY1):c.216G>T (p.Pro72=)
NM_014918.5(CHSY1):c.219C>A (p.Pro73=) rs373485537
NM_014918.5(CHSY1):c.226G>A (p.Asp76Asn) rs2505429863
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.48C>A (p.Leu16=) rs762682745
NM_014918.5(CHSY1):c.55_84del (p.Gly19_Leu28del) rs2039109846
NM_014918.5(CHSY1):c.96del (p.Glu33fs) rs1596459125

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