ClinVar Miner

List of variants reported as likely benign for Joubert syndrome 21 by Invitae

Included ClinVar conditions (1):
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Total variants: 14
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HGVS dbSNP
NM_024790.6(CSPP1):c.1088A>G (p.Asp363Gly) rs146127619
NM_024790.6(CSPP1):c.1168C>T (p.Leu390=) rs539302524
NM_024790.6(CSPP1):c.159C>T (p.Ala53=) rs370003497
NM_024790.6(CSPP1):c.189A>T (p.Pro63=) rs1271272185
NM_024790.6(CSPP1):c.212A>G (p.Lys71Arg) rs200158932
NM_024790.6(CSPP1):c.2253A>G (p.Glu751=) rs199962946
NM_024790.6(CSPP1):c.2575A>C (p.Ser859Arg) rs201259375
NM_024790.6(CSPP1):c.2657C>T (p.Pro886Leu) rs755021253
NM_024790.6(CSPP1):c.3389T>G (p.Leu1130Arg) rs546683385
NM_024790.6(CSPP1):c.3390T>G (p.Leu1130=) rs376215036
NM_024790.6(CSPP1):c.3563C>T (p.Thr1188Met) rs201142840
NM_024790.6(CSPP1):c.538A>G (p.Ile180Val) rs188917565
NM_024790.6(CSPP1):c.659G>T (p.Arg220Leu) rs193231165
NM_024790.6(CSPP1):c.842G>A (p.Arg281Gln) rs201609022

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