ClinVar Miner

List of variants in gene combination H19, H19-ICR, MRPL23 reported as not provided for Beckwith-Wiedemann syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NR_131224.1(H19):n.-297A>C rs587777745
NR_131224.1(H19):n.249+1110G>T rs431825167
NR_131224.1(H19):n.249+135C>T rs431825164
NR_131224.1(H19):n.249+189G>T rs431825168
NR_131224.1(H19):n.249+510A>T rs431825166
NR_131224.1(H19):n.249+613T>A rs431825169

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