ClinVar Miner

List of variants reported as likely pathogenic for distal arthrogryposis type 5D

Included ClinVar conditions (1):
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys) rs532757890 0.00001
NM_004826.4(ECEL1):c.1252C>T (p.Arg418Cys) rs587776919 0.00001
NM_004826.4(ECEL1):c.2023G>A (p.Ala675Thr) rs606231471 0.00001
NM_004826.4(ECEL1):c.1151A>C (p.Gln384Pro)
NM_004826.4(ECEL1):c.1184G>A (p.Arg395Gln) rs765430577
NM_004826.4(ECEL1):c.1209G>T (p.Trp403Cys) rs1553567411
NM_004826.4(ECEL1):c.1253G>A (p.Arg418His)
NM_004826.4(ECEL1):c.1369T>G (p.Phe457Val)
NM_004826.4(ECEL1):c.1531G>A (p.Gly511Ser)
NM_004826.4(ECEL1):c.1686-2A>T
NM_004826.4(ECEL1):c.1779C>G (p.Tyr593Ter)
NM_004826.4(ECEL1):c.1783_1788del (p.Pro595_Asp596del)
NM_004826.4(ECEL1):c.1797-8G>A rs1553566820
NM_004826.4(ECEL1):c.1862G>A (p.Trp621Ter)
NM_004826.4(ECEL1):c.1907C>T (p.Thr636Met)
NM_004826.4(ECEL1):c.1990-3C>G rs1229171141
NM_004826.4(ECEL1):c.1A>G (p.Met1Val) rs1356994386
NM_004826.4(ECEL1):c.2151+2T>C
NM_004826.4(ECEL1):c.367T>C (p.Cys123Arg)
NM_004826.4(ECEL1):c.38del (p.Glu13fs)
NM_004826.4(ECEL1):c.398_410del (p.Gly133fs)
NM_004826.4(ECEL1):c.402G>A (p.Trp134Ter)
NM_004826.4(ECEL1):c.870C>A (p.Tyr290Ter) rs1281396824

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