ClinVar Miner

List of variants studied for Huntington disease-like syndrome by GeneReviews

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_004993.6(ATXN3):c.916G>C (p.Gly306Arg) rs12895357 0.00572
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg) rs137852959 0.00024
NM_000146.4(FTL):c.474G>A (p.Pro158=) rs758414077 0.00003
NM_001386393.1(PANK2):c.1021C>T (p.Arg341Ter) rs1250997630 0.00003
NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met) rs137852967 0.00002
NM_001386393.1(PANK2):c.1083-1G>T rs148987163 0.00001
NM_001386393.1(PANK2):c.350A>G (p.Tyr117Cys) rs1555787646 0.00001
NM_021083.4(XK):c.508+5G>A rs534318896 0.00001
NM_000146.4(FTL):c.439_442dup (p.His148fs) rs2122435944
NM_000146.4(FTL):c.442dup (p.His148fs) rs2122435950
NM_000146.4(FTL):c.458dup (p.His153fs) rs587776840
NM_000146.4(FTL):c.460dup (p.Arg154fs) rs2122436083
NM_000146.4(FTL):c.469_484dup (p.Leu162fs) rs398124640
NM_000146.4(FTL):c.498_499dup (p.Phe167fs) rs1114167274
NM_001007026.1(ATN1):c.1462CAG[(6_35)] (p.Gln488[(6-35)])
NM_001007026.1(ATN1):c.1462CAG[(90_93)] (p.Gln488[(90-93)])
NM_001007026.1(ATN1):c.1462CAG[49_55] (p.Gln488[49_55]) rs60216939
NM_002973.4(ATXN2):c.16CAG[22_31] (p.6Gln[22_31]) rs1885090126
NM_002973.4(ATXN2):c.16CAG[33_?] (p.6Gln[33_?]) rs1885090126
NM_004993.5(ATXN3):c.886_888CAG(12_44) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
NM_004993.5(ATXN3):c.886_888CAG(60_86) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
NM_021083.4(XK):c.664C>G (p.Arg222Gly) rs2146834483
NM_021083.4(XK):c.880T>C (p.Cys294Arg) rs28933690
NM_021083.4(XK):c.979G>A (p.Glu327Lys) rs2146834720
Single allele

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