ClinVar Miner

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

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Total variants: 15
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HGVS dbSNP
NM_024790.6(CSPP1):c.1376C>G (p.Ser459Cys) rs146431326
NM_024790.6(CSPP1):c.1506C>T (p.Pro502=) rs199923715
NM_024790.6(CSPP1):c.154T>C (p.Leu52=) rs150924296
NM_024790.6(CSPP1):c.1783C>G (p.Gln595Glu) rs73693125
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 rs199910808
NM_024790.6(CSPP1):c.992A>G (p.His331Arg) rs141389465

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