ClinVar Miner

List of variants reported as uncertain significance for Lopes-Maciel-Rodan syndrome by Baylor Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001388492.1(HTT):c.3709C>A (p.Leu1237Ile) rs188342053 0.00010
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.5226-4G>T rs1718894157

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