ClinVar Miner

List of variants in gene KLHL3 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (902):
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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP
KLHL3, ASN529LYS
KLHL3, TRP470TER
NM_017415.3(KLHL3):c.1007G>T (p.Arg336Ile) rs199469640
NM_017415.3(KLHL3):c.1019C>T (p.Ala340Val) rs199469628
NM_017415.3(KLHL3):c.1151G>A (p.Arg384Gln) rs199469629
NM_017415.3(KLHL3):c.1160T>C (p.Leu387Pro) rs199469630
NM_017415.3(KLHL3):c.1193C>T (p.Ala398Val) rs387907155
NM_017415.3(KLHL3):c.1229C>T (p.Ser410Leu) rs199469641
NM_017415.3(KLHL3):c.1277C>T (p.Pro426Leu) rs387907156
NM_017415.3(KLHL3):c.1280T>C (p.Met427Thr) rs199469642
NM_017415.3(KLHL3):c.1292G>A (p.Arg431Gln) rs199469643
NM_017415.3(KLHL3):c.1295G>A (p.Ser432Asn) rs199469631
NM_017415.3(KLHL3):c.1298G>A (p.Ser433Asn) rs199469632
NM_017415.3(KLHL3):c.1410G>A (p.Trp470Ter) rs199469644
NM_017415.3(KLHL3):c.1480G>A (p.Ala494Thr) rs199469633
NM_017415.3(KLHL3):c.1501C>A (p.Pro501Thr) rs199469634
NM_017415.3(KLHL3):c.1582C>T (p.Arg528Cys) rs199469635
NM_017415.3(KLHL3):c.1583G>A (p.Arg528His) rs199469636
NM_017415.3(KLHL3):c.1670A>G (p.Tyr557Cys) rs199469645
NM_017415.3(KLHL3):c.1723C>T (p.Arg575Trp) rs199469646
NM_017415.3(KLHL3):c.230C>A (p.Ala77Glu) rs199469623
NM_017415.3(KLHL3):c.232A>G (p.Met78Val) rs199469624
NM_017415.3(KLHL3):c.254A>C (p.Glu85Ala) rs199469625
NM_017415.3(KLHL3):c.430C>T (p.Gln144Ter) rs199469637
NM_017415.3(KLHL3):c.491G>T (p.Cys164Phe) rs199469626
NM_017415.3(KLHL3):c.718C>T (p.Arg240Ter) rs199469638
NM_017415.3(KLHL3):c.721del (p.Leu241fs) rs199469647
NM_017415.3(KLHL3):c.753+1G>A rs199469648
NM_017415.3(KLHL3):c.926A>G (p.Gln309Arg) rs199469627
NM_017415.3(KLHL3):c.965T>G (p.Phe322Cys) rs199469639

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