ClinVar Miner

List of variants reported as likely pathogenic for Rhizomelic chondrodysplasia punctata type 1

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Total variants: 37
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HGVS dbSNP
NM_000288.4(PEX7):c.116A>C (p.His39Pro) rs61753237
NM_000288.4(PEX7):c.130+1G>C rs267608253
NM_000288.4(PEX7):c.131-2A>G rs1554328790
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs) rs62636519
NM_000288.4(PEX7):c.189-2A>G rs1554328952
NM_000288.4(PEX7):c.233del (p.Asn78fs) rs1582732852
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter) rs763514968
NM_000288.4(PEX7):c.31_56del (p.Met11fs) rs1057516961
NM_000288.4(PEX7):c.334C>T (p.Gln112Ter) rs62653604
NM_000288.4(PEX7):c.339+2T>C rs1057517059
NM_000288.4(PEX7):c.340-10A>G rs267608255
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter) rs121909154
NM_000288.4(PEX7):c.373G>T (p.Glu125Ter) rs769137963
NM_000288.4(PEX7):c.400G>A (p.Asp134Asn) rs764346452
NM_000288.4(PEX7):c.429del (p.Val144fs) rs61753248
NM_000288.4(PEX7):c.508del (p.Cys170fs) rs1057516827
NM_000288.4(PEX7):c.527-2A>G rs1057517339
NM_000288.4(PEX7):c.538_539del (p.Leu180fs) rs1582757650
NM_000288.4(PEX7):c.545dup (p.Trp183fs) rs1057516574
NM_000288.4(PEX7):c.592C>T (p.Gln198Ter) rs764924345
NM_000288.4(PEX7):c.60C>G (p.Tyr20Ter) rs1057516882
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) rs61753245
NM_000288.4(PEX7):c.633+1G>A rs1057516989
NM_000288.4(PEX7):c.641T>C (p.Leu214Pro) rs1554333880
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter) rs121909153
NM_000288.4(PEX7):c.735dup (p.Arg246Ter) rs1582760004
NM_000288.4(PEX7):c.736_747+17del rs1057517257
NM_000288.4(PEX7):c.748-2A>G rs778862698
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe) rs61753236
NM_000288.4(PEX7):c.774_784del (p.Ala259fs) rs1057516824
NM_000288.4(PEX7):c.806dup (p.Trp270fs) rs1464766327
NM_000288.4(PEX7):c.817del (p.Ser273fs) rs1554335926
NM_000288.4(PEX7):c.81C>G (p.Tyr27Ter) rs1057516737
NM_000288.4(PEX7):c.870_871insCAA (p.Gly291_Leu292insGln) rs267608257
NM_000288.4(PEX7):c.871_874del (p.Cys290_Gly291insTer) rs1554335937

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