ClinVar Miner

List of variants reported as benign for Joubert syndrome with Jeune asphyxiating thoracic dystrophy

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP
NM_001329943.3(KIAA0586):c.100G>T (p.Val34Phe) rs186659284
NM_001329943.3(KIAA0586):c.1056A>G (p.Ser352=) rs148006211
NM_001329943.3(KIAA0586):c.1097A>T (p.Glu366Val)
NM_001329943.3(KIAA0586):c.1230A>G (p.Gly410=) rs10135645
NM_001329943.3(KIAA0586):c.1439C>T (p.Thr480Ile) rs61745119
NM_001329943.3(KIAA0586):c.1543G>A (p.Ala515Thr) rs568910724
NM_001329943.3(KIAA0586):c.1570T>A (p.Leu524Ile) rs61742715
NM_001329943.3(KIAA0586):c.202T>A (p.Ser68Thr) rs147119902
NM_001329943.3(KIAA0586):c.2060-3T>C rs17094553
NM_001329943.3(KIAA0586):c.257T>C (p.Met86Thr)
NM_001329943.3(KIAA0586):c.2735C>T (p.Pro912Leu) rs139493302
NM_001329943.3(KIAA0586):c.3104G>A (p.Gly1035Asp) rs77860620
NM_001329943.3(KIAA0586):c.3165_3166delinsAG (p.Pro1056Ala) rs386777947
NM_001329943.3(KIAA0586):c.3283A>C (p.Lys1095Gln) rs140565291
NM_001329943.3(KIAA0586):c.3719T>C (p.Leu1240Ser) rs190271845
NM_001329943.3(KIAA0586):c.3920A>G (p.Asp1307Gly) rs3783697
NM_001329943.3(KIAA0586):c.4047G>A (p.Ala1349=)
NM_001329943.3(KIAA0586):c.4125A>G (p.Gln1375=)
NM_001329943.3(KIAA0586):c.422T>C (p.Met141Thr) rs61735931
NM_001329943.3(KIAA0586):c.42T>A (p.Ile14=)
NM_001329943.3(KIAA0586):c.4461T>C (p.Ile1487=) rs11611
NM_001329943.3(KIAA0586):c.4560G>A (p.Pro1520=) rs45568037
NM_001329943.3(KIAA0586):c.4629G>A (p.Ser1543=)
NM_001329943.3(KIAA0586):c.698G>A (p.Arg233Lys)
NM_001329943.3(KIAA0586):c.974A>T (p.Glu325Val) rs144456198
NM_024790.6(CSPP1):c.1376C>G (p.Ser459Cys) rs146431326
NM_024790.6(CSPP1):c.1506C>T (p.Pro502=)
NM_024790.6(CSPP1):c.154T>C (p.Leu52=)
NM_024790.6(CSPP1):c.1783C>G (p.Gln595Glu)
NM_024790.6(CSPP1):c.1962T>C (p.Thr654=) rs114177619
NM_024790.6(CSPP1):c.2107A>G (p.Ser703Gly) rs201316149
NM_024790.6(CSPP1):c.2377-8_2377-4del rs528357182
NM_024790.6(CSPP1):c.30A>G (p.Val10=) rs181470846
NM_024790.6(CSPP1):c.3123A>G (p.Lys1041=) rs76567936
NM_024790.6(CSPP1):c.3150T>C (p.Asp1050=) rs10112748
NM_024790.6(CSPP1):c.3270C>T (p.Pro1090=) rs201008264
NM_024790.6(CSPP1):c.3298T>C (p.Trp1100Arg) rs1808140
NM_024790.6(CSPP1):c.3478C>T (p.Pro1160Ser) rs200161440
NM_024790.6(CSPP1):c.951-9G>A
NM_024790.6(CSPP1):c.992A>G (p.His331Arg)

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