ClinVar Miner

List of variants reported as uncertain significance for congenital diaphragmatic hernia by Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_012082.4(ZFPM2):c.1168A>C (p.Lys390Gln) rs536096943
NM_012082.4(ZFPM2):c.130G>A (p.Glu44Lys) rs569356297

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