List of variants in gene HTT studied for Lopes-Maciel-Rodan syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001388492.1(HTT):c.7765+10G>A	rs79218467	0.03400
NM_001388492.1(HTT):c.3779C>T (p.Thr1260Met)	rs34315806	0.02416
NM_001388492.1(HTT):c.4638C>G (p.Val1546=)	rs116293982	0.00198
NM_001388492.1(HTT):c.3709C>A (p.Leu1237Ile)	rs188342053	0.00010
NM_001388492.1(HTT):c.2108C>T (p.Pro703Leu)	rs768047421	0.00004
NM_001388492.1(HTT):c.1913A>G (p.Gln638Arg)
NM_001388492.1(HTT):c.1972G>A (p.Asp658Asn)	rs1715752151
NM_001388492.1(HTT):c.1978G>A (p.Glu660Lys)
NM_001388492.1(HTT):c.2396-9T>G	rs1715887741
NM_001388492.1(HTT):c.3671C>T (p.Ser1224Phe)	rs1717189753
NM_001388492.1(HTT):c.3677C>T (p.Ser1226Leu)
NM_001388492.1(HTT):c.4463+1G>A	rs1060505027
NM_001388492.1(HTT):c.5226-4G>T	rs1718894157
NM_001388492.1(HTT):c.8150T>A (p.Phe2717Tyr)	rs1060505028
NM_001388492.1(HTT):c.8903G>A (p.Gly2968Asp)	rs1721646894
NM_001388492.1(HTT):c.[5473A>G;8248G>A]

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