ClinVar Miner

List of variants reported as uncertain significance for congenital diaphragmatic hernia

Included ClinVar conditions (13):
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ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_181458.4(PAX3):c.944C>A (p.Thr315Lys) rs2234675 0.02573
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu) rs121908603 0.00019
NM_001004356.3(FGFRL1):c.1328G>C (p.Gly443Ala) rs759581394 0.00011
NM_001004356.3(FGFRL1):c.886A>G (p.Ile296Val) rs753437773 0.00001
46;X;t(X;10)(p11.2;q24.3)
46;XY;t(1;6)(p22;q15)dn
NM_001242896.3(DEPDC5):c.2785G>A (p.Gly929Ser) rs1569084151
NM_001379081.2(FREM1):c.1394G>C (p.Gly465Ala) rs41298151
NM_002430.3(MN1):c.3839del (p.Cys1280fs) rs1601319594
NM_005032.7(PLS3):c.1054T>C (p.Phe352Leu) rs2147577404
NM_005032.7(PLS3):c.1090A>G (p.Lys364Glu)
NM_005032.7(PLS3):c.1774A>G (p.Met592Val)
NM_005032.7(PLS3):c.359C>T (p.Ser120Phe)
NM_006767.4(LZTR1):c.955del (p.Gln319fs) rs1386054181
NM_012082.4(ZFPM2):c.1168A>C (p.Lys390Gln) rs536096943
NM_012082.4(ZFPM2):c.130G>A (p.Glu44Lys) rs569356297
NM_012082.4(ZFPM2):c.2164G>C (p.Ala722Pro)
NM_012082.4(ZFPM2):c.3335G>A (p.Ser1112Asn) rs763181942

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