ClinVar Miner

List of variants in gene PTHLH reported as pathogenic for brachydactyly type E2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_198965.2(PTHLH):c.131T>C (p.Leu44Pro) rs267606986
NM_198965.2(PTHLH):c.179T>C (p.Leu60Pro) rs267606985
NM_198965.2(PTHLH):c.358A>T (p.Lys120Ter) rs267606988
NM_198965.2(PTHLH):c.44T>G (p.Leu15Arg) rs2120670890
NM_198965.2(PTHLH):c.534A>G (p.Ter178Trp) rs267606987

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