ClinVar Miner

List of variants in gene combination INS, INS-IGF2, TH reported as benign for TH-deficient dopa-responsive dystonia

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000207.3(INS):c.-17-6T>A rs689
NM_000207.3(INS):c.-18+4_-18+5insTTGC rs3842740
NM_000207.3(INS):c.187+11T>C rs5506
NM_001042376.3(INS-IGF2):c.187+942C>T rs3842752
NM_001042376.3(INS-IGF2):c.187+955A>C rs3842753

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