ClinVar Miner

List of variants in gene LOXHD1 reported as likely pathogenic for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_001384474.1(LOXHD1):c.3061+1G>A rs537227442 0.00006
NM_001384474.1(LOXHD1):c.4376-2A>G rs886043616 0.00006
NM_001384474.1(LOXHD1):c.6539G>A (p.Gly2180Glu) rs763915229 0.00006
NM_001384474.1(LOXHD1):c.5224C>T (p.Arg1742Cys) rs561122654 0.00004
NM_001384474.1(LOXHD1):c.4212+5G>A rs752553552 0.00003
NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter) rs886044666 0.00003
NM_001384474.1(LOXHD1):c.71del (p.Leu24fs) rs775267638 0.00003
NM_001384474.1(LOXHD1):c.760-2del rs770408532 0.00003
NM_001384474.1(LOXHD1):c.4212+1G>A rs889110926 0.00002
NM_001384474.1(LOXHD1):c.246-2A>G rs763062406 0.00001
NM_001384474.1(LOXHD1):c.4531-2A>G rs951333133 0.00001
NM_001384474.1(LOXHD1):c.4794_4795insTC (p.Ile1599fs) rs1598914701 0.00001
NM_001384474.1(LOXHD1):c.4936C>T (p.Arg1646Ter) rs960741408 0.00001
NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter) rs961865375 0.00001
NM_001384474.1(LOXHD1):c.5085+1G>T rs1418245706 0.00001
NM_001384474.1(LOXHD1):c.6224G>A (p.Gly2075Glu) rs1442825433 0.00001
NM_001384474.1(LOXHD1):c.1190G>A (p.Trp397Ter)
NM_001384474.1(LOXHD1):c.1217T>A (p.Leu406Ter)
NM_001384474.1(LOXHD1):c.1286del (p.Leu429fs) rs2144243196
NM_001384474.1(LOXHD1):c.1357A>T (p.Lys453Ter)
NM_001384474.1(LOXHD1):c.1483A>T (p.Lys495Ter)
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs) rs1555683951
NM_001384474.1(LOXHD1):c.1798G>T (p.Glu600Ter)
NM_001384474.1(LOXHD1):c.1933C>T (p.Gln645Ter)
NM_001384474.1(LOXHD1):c.205G>T (p.Gly69Ter)
NM_001384474.1(LOXHD1):c.2395G>T (p.Glu799Ter)
NM_001384474.1(LOXHD1):c.2598+1G>A
NM_001384474.1(LOXHD1):c.2773C>T (p.Gln925Ter) rs2037495535
NM_001384474.1(LOXHD1):c.2842del (p.Glu948fs) rs2144013371
NM_001384474.1(LOXHD1):c.3061+1G>T rs537227442
NM_001384474.1(LOXHD1):c.3350+1G>A rs1301706601
NM_001384474.1(LOXHD1):c.3401_3404dup (p.Ser1136fs) rs2143824066
NM_001384474.1(LOXHD1):c.3544A>T (p.Lys1182Ter)
NM_001384474.1(LOXHD1):c.3663del (p.Phe1221fs) rs2144371589
NM_001384474.1(LOXHD1):c.3727C>T (p.Arg1243Trp)
NM_001384474.1(LOXHD1):c.3892C>T (p.Gln1298Ter)
NM_001384474.1(LOXHD1):c.3999C>A (p.Cys1333Ter)
NM_001384474.1(LOXHD1):c.4095+1G>A rs1280052681
NM_001384474.1(LOXHD1):c.4096-1G>C rs749861944
NM_001384474.1(LOXHD1):c.4375+1G>T rs2036150181
NM_001384474.1(LOXHD1):c.4582A>T (p.Lys1528Ter)
NM_001384474.1(LOXHD1):c.464G>A (p.Trp155Ter)
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter) rs75949023
NM_001384474.1(LOXHD1):c.4738A>T (p.Lys1580Ter)
NM_001384474.1(LOXHD1):c.4740+1G>A rs2144167172
NM_001384474.1(LOXHD1):c.4877-1G>A rs1598909650
NM_001384474.1(LOXHD1):c.4940C>A (p.Ala1647Asp)
NM_001384474.1(LOXHD1):c.5330del (p.Asn1777fs) rs776345911
NM_001384474.1(LOXHD1):c.5383_5384insCACACAC (p.Asp1795fs)
NM_001384474.1(LOXHD1):c.5413C>T (p.Gln1805Ter)
NM_001384474.1(LOXHD1):c.5458_5459del (p.Thr1820fs)
NM_001384474.1(LOXHD1):c.5527A>T (p.Lys1843Ter)
NM_001384474.1(LOXHD1):c.5619T>A (p.Cys1873Ter)
NM_001384474.1(LOXHD1):c.5668_5669del (p.Ala1890fs)
NM_001384474.1(LOXHD1):c.5988del (p.Gln1997fs)
NM_001384474.1(LOXHD1):c.5992_5998delinsCA (p.Thr1998fs)
NM_001384474.1(LOXHD1):c.6071del (p.Thr2024fs) rs2032939837
NM_001384474.1(LOXHD1):c.6106_6107insA (p.Leu2036fs)
NM_001384474.1(LOXHD1):c.6182+1G>T rs200375658
NM_001384474.1(LOXHD1):c.6342-1G>A
NM_001384474.1(LOXHD1):c.6492T>G (p.Tyr2164Ter) rs1434725624
NM_001384474.1(LOXHD1):c.963T>A (p.Tyr321Ter)

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