ClinVar Miner

List of variants studied for Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_177400.3(NKX6-2):c.626T>C (p.Val209Ala) rs2804003 0.96211
NM_177400.3(NKX6-2):c.541C>G (p.Leu181Val) rs369901030 0.00008
NM_177400.3(NKX6-2):c.301C>A (p.Arg101Ser) rs1207105923 0.00001
NM_177400.3(NKX6-2):c.59A>G (p.His20Arg) rs745907425 0.00001
NM_177400.3(NKX6-2):c.119del (p.Phe40fs) rs2134707158
NM_177400.3(NKX6-2):c.121A>T (p.Lys41Ter) rs1131692047
NM_177400.3(NKX6-2):c.175G>T (p.Gly59Cys)
NM_177400.3(NKX6-2):c.196del (p.Arg66fs) rs1554961118
NM_177400.3(NKX6-2):c.234del (p.Leu79fs) rs765650727
NM_177400.3(NKX6-2):c.287_288dup (p.Ala97fs)
NM_177400.3(NKX6-2):c.305G>T (p.Gly102Val)
NM_177400.3(NKX6-2):c.450C>G (p.His150Gln) rs958289238
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val) rs1131692048
NM_177400.3(NKX6-2):c.501C>G (p.Phe167Leu) rs1375888398
NM_177400.3(NKX6-2):c.516C>G (p.Tyr172Ter) rs2134706418
NM_177400.3(NKX6-2):c.565G>T (p.Glu189Ter) rs776560015
NM_177400.3(NKX6-2):c.571C>T (p.Gln191Ter) rs2134706311
NM_177400.3(NKX6-2):c.589C>T (p.Gln197Ter) rs1565019976
NM_177400.3(NKX6-2):c.592A>G (p.Asn198Asp) rs2134706153
NM_177400.3(NKX6-2):c.598C>T (p.Arg200Trp) rs770310729
NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln) rs1008088032
NM_177400.3(NKX6-2):c.606delinsTA (p.Lys202fs) rs1565019932
NM_177400.3(NKX6-2):c.608G>A (p.Trp203Ter) rs1565019928
NM_177400.3(NKX6-2):c.89T>G (p.Phe30Cys)

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