ClinVar Miner

List of variants reported as benign for Joubert syndrome 1 by Invitae

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_001082538.3(TCTN1):c.473-6_473-4del rs10577377
NM_003611.3(OFD1):c.1594G>A (p.Val532Ile) rs780521580
NM_003611.3(OFD1):c.1876G>C (p.Glu626Gln) rs146930931
NM_003611.3(OFD1):c.2025G>T (p.Leu675Phe) rs149473481
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu) rs146251034
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163

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