ClinVar Miner

List of variants reported as likely pathogenic for obsolete Heimler syndrome 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln) rs61750425 0.00004
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr) rs61750427 0.00003
NM_000466.3(PEX1):c.721del (p.Ser241fs) rs894289737 0.00003
NM_000466.3(PEX1):c.1126del (p.Glu376fs) rs751829426 0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455 0.00001
NM_000466.3(PEX1):c.2636T>C (p.Leu879Ser) rs1362906637 0.00001
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp) rs866184460 0.00001
NM_000466.3(PEX1):c.1099del (p.Gln367fs) rs1403870448
NM_000466.3(PEX1):c.1108del (p.Ile370fs) rs61750406
NM_000466.3(PEX1):c.1240-2A>G
NM_000466.3(PEX1):c.1342C>T (p.Gln448Ter) rs1467651370
NM_000466.3(PEX1):c.1359del (p.Leu453fs)
NM_000466.3(PEX1):c.1370_1371del (p.Ile457fs)
NM_000466.3(PEX1):c.1393_1394del (p.Val465fs) rs1164941642
NM_000466.3(PEX1):c.1450G>T (p.Glu484Ter)
NM_000466.3(PEX1):c.1528G>T (p.Glu510Ter) rs754983126
NM_000466.3(PEX1):c.1583_1587del (p.Ile528fs)
NM_000466.3(PEX1):c.1585C>T (p.Gln529Ter)
NM_000466.3(PEX1):c.1587+1G>A rs1057517469
NM_000466.3(PEX1):c.1587+1G>C
NM_000466.3(PEX1):c.1652T>A (p.Leu551Ter)
NM_000466.3(PEX1):c.1728_1735delinsCTGTGA (p.Arg577fs)
NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro) rs370483961
NM_000466.3(PEX1):c.1777G>T (p.Gly593Ter)
NM_000466.3(PEX1):c.1786_1787del (p.Leu596fs)
NM_000466.3(PEX1):c.1804G>T (p.Gly602Ter)
NM_000466.3(PEX1):c.2001dup (p.Ala668fs)
NM_000466.3(PEX1):c.205C>T (p.Gln69Ter)
NM_000466.3(PEX1):c.2072-1G>C
NM_000466.3(PEX1):c.2079del (p.Asn693fs)
NM_000466.3(PEX1):c.2137C>T (p.Gln713Ter) rs1057517468
NM_000466.3(PEX1):c.2162_2164delinsAA (p.Leu721_Leu722delinsTer)
NM_000466.3(PEX1):c.2308C>T (p.Gln770Ter)
NM_000466.3(PEX1):c.2392C>G (p.Arg798Gly)
NM_000466.3(PEX1):c.2443C>T (p.Gln815Ter) rs1306607552
NM_000466.3(PEX1):c.2489dup (p.Asn830fs) rs1554370868
NM_000466.3(PEX1):c.2592dup (p.Leu865fs)
NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter) rs1057517485
NM_000466.3(PEX1):c.2692_2693del (p.Glu897_Ser898insTer) rs2116132444
NM_000466.3(PEX1):c.269del (p.Gly90fs) rs1275822594
NM_000466.3(PEX1):c.2719-2A>G rs1554369234
NM_000466.3(PEX1):c.273+1G>A rs1554376597
NM_000466.3(PEX1):c.273+2T>G
NM_000466.3(PEX1):c.2770del (p.Asp924fs)
NM_000466.3(PEX1):c.2784-1G>C
NM_000466.3(PEX1):c.2798dup (p.Pro934fs) rs1057517484
NM_000466.3(PEX1):c.2835_2841del (p.Ala946fs)
NM_000466.3(PEX1):c.2859dup (p.Thr954fs) rs1057517472
NM_000466.3(PEX1):c.2873_2875delinsT (p.Asp958fs) rs2116094537
NM_000466.3(PEX1):c.2922del (p.Leu974fs) rs762324548
NM_000466.3(PEX1):c.2927-2A>G rs1057517531
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter) rs61750428
NM_000466.3(PEX1):c.3030+1del
NM_000466.3(PEX1):c.3031-1G>A
NM_000466.3(PEX1):c.3037C>T (p.Arg1013Cys) rs1791439311
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His) rs1484321655
NM_000466.3(PEX1):c.304_305delinsA (p.Ser102fs)
NM_000466.3(PEX1):c.3070_3071del (p.Leu1024fs) rs1312351030
NM_000466.3(PEX1):c.3115del (p.Thr1039fs) rs1562846257
NM_000466.3(PEX1):c.3169G>T (p.Glu1057Ter)
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs) rs886043558
NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer) rs1585214453
NM_000466.3(PEX1):c.3439-1G>T
NM_000466.3(PEX1):c.3455_3456del (p.Ser1152fs) rs759183382
NM_000466.3(PEX1):c.3488del (p.Gly1163fs)
NM_000466.3(PEX1):c.349G>T (p.Glu117Ter)
NM_000466.3(PEX1):c.3505C>T (p.Gln1169Ter)
NM_000466.3(PEX1):c.357+1G>T rs866144313
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter) rs1057517467
NM_000466.3(PEX1):c.358-1G>T rs1057517479
NM_000466.3(PEX1):c.358-2A>C rs1057517500
NM_000466.3(PEX1):c.3622del (p.Arg1208fs) rs1791174009
NM_000466.3(PEX1):c.3637-1G>A
NM_000466.3(PEX1):c.3691C>T (p.Gln1231Ter)
NM_000466.3(PEX1):c.3695C>G (p.Ser1232Ter)
NM_000466.3(PEX1):c.3716dup (p.His1240fs)
NM_000466.3(PEX1):c.43del (p.Ala15fs)
NM_000466.3(PEX1):c.4_5del (p.Trp2fs)
NM_000466.3(PEX1):c.560_566dup (p.Phe189fs)
NM_000466.3(PEX1):c.56_80del (p.Val19fs) rs1793398751
NM_000466.3(PEX1):c.655del (p.Gln219fs)
NM_000466.3(PEX1):c.727_742dup (p.Met248fs)
NM_000466.3(PEX1):c.735_737dup (p.Trp246Ter)
NM_000466.3(PEX1):c.804del (p.Glu269fs)
NM_000466.3(PEX1):c.826dup (p.Met276fs)
NM_000466.3(PEX1):c.831_834del (p.Ser278fs) rs2116245323
NM_000466.3(PEX1):c.877C>T (p.Gln293Ter)
NM_000466.3(PEX1):c.8dup (p.Ser4fs)
NM_000466.3(PEX1):c.955C>T (p.Gln319Ter) rs2116244185

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