ClinVar Miner

List of variants studied for Huntington disease

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001388492.1(HTT):c.6250G>A (p.Gly2084Arg) rs780493120 0.00003
NC_000004.11:g.3076606GCA[(?_26)]
NC_000004.11:g.3076606GCA[27_35]
NC_000004.11:g.3076606GCA[36_39]
NC_000004.11:g.3076606GCA[40_?]
NM_001388492.1(HTT):c.54GCA[13] (p.Gln33_Gln38del) rs1712396191
NM_001388492.1(HTT):c.54GCA[22] (p.Gln36_Gln38dup) rs71180116
NM_001388492.1(HTT):c.54GCA[40] (p.Gln18_Gln38dup) rs71180116
NM_001388492.1(HTT):c.8903G>A (p.Gly2968Asp) rs1721646894
NM_002111.8(HTT):c.52CAG[27_35] (p.Gln18_Gln38delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
NM_002111.8(HTT):c.52CAG[36_39]
NM_002111.8(HTT):c.52CAG[?_25]

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