ClinVar Miner

List of variants studied for Diaphragmatic hernia 3; Tetralogy of Fallot; 46,XY sex reversal 9 by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly) rs28374544 0.04175
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152 0.00306
NM_012082.4(ZFPM2):c.3086A>T (p.Lys1029Ile) rs201729935 0.00026
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu) rs121908603 0.00019
NM_012082.4(ZFPM2):c.1463T>C (p.Ile488Thr) rs775854541 0.00003
NM_012082.4(ZFPM2):c.235G>C (p.Asp79His)
NM_012082.4(ZFPM2):c.350G>A (p.Arg117Gln)
NM_012082.4(ZFPM2):c.931C>G (p.Arg311Gly)

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