ClinVar Miner

List of variants reported as pathogenic for congenital diaphragmatic hernia

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) rs121908601 0.00293
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu) rs121908603 0.00019
NM_012082.4(ZFPM2):c.334C>T (p.Arg112Ter) rs121908602 0.00001
46;XX;t(7;13)(p13;q34)dn
NM_001260.3(CDK8):c.185C>A (p.Ser62Ter) rs1565977796
NM_003888.4(ALDH1A2):c.1040G>A (p.Arg347His)
NM_003888.4(ALDH1A2):c.1147G>A (p.Ala383Thr)
NM_003888.4(ALDH1A2):c.1382C>A (p.Ser461Tyr)
NM_003888.4(ALDH1A2):c.544C>A (p.Gln182Lys)
NM_005032.7(PLS3):c.1054T>C (p.Phe352Leu) rs2147577404
NM_005032.7(PLS3):c.1497G>C (p.Trp499Cys)
NM_005032.7(PLS3):c.1774A>G (p.Met592Val)
NM_005032.7(PLS3):c.617C>T (p.Ala206Val) rs2147551760
NM_005032.7(PLS3):c.808G>A (p.Glu270Lys)
NM_005257.6(GATA6):c.1072del (p.Val358fs) rs1555628863
NM_005257.6(GATA6):c.1366C>T (p.Arg456Cys) rs387906818
NM_005257.6(GATA6):c.712G>T (p.Gly238Ter) rs587777710
NM_012082.4(ZFPM2):c.1396_1399dup (p.Tyr467fs) rs1814012663
NM_012082.4(ZFPM2):c.2527A>G (p.Thr843Ala) rs121908604
NM_012082.4(ZFPM2):c.349C>T (p.Arg117Ter)
NM_012082.4(ZFPM2):c.757_761dup (p.Cys255fs) rs1813907455

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