ClinVar Miner

List of variants reported as uncertain significance for Joubert syndrome 21

Included ClinVar conditions (1):
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Total variants: 15
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HGVS dbSNP
NC_000008.10:g.(?_68024187)_(68107848_?)dup
NM_024790.6(CSPP1):c.1088A>G (p.Asp363Gly)
NM_024790.6(CSPP1):c.113C>T (p.Ala38Val) rs553988238
NM_024790.6(CSPP1):c.1660C>A (p.His554Asn)
NM_024790.6(CSPP1):c.1678G>A (p.Val560Ile) rs199608505
NM_024790.6(CSPP1):c.1931C>T (p.Pro644Leu) rs376210928
NM_024790.6(CSPP1):c.1968G>C (p.Leu656Phe)
NM_024790.6(CSPP1):c.1972A>G (p.Arg658Gly)
NM_024790.6(CSPP1):c.2146C>G (p.Arg716Gly) rs778822396
NM_024790.6(CSPP1):c.2279C>A (p.Ala760Glu) rs376549634
NM_024790.6(CSPP1):c.2720A>G (p.Glu907Gly)
NM_024790.6(CSPP1):c.2798A>G (p.Asp933Gly)
NM_024790.6(CSPP1):c.3281A>G (p.Glu1094Gly) rs201629827
NM_024790.6(CSPP1):c.3494_3497dup (p.His1166fs) rs776145236
NM_024790.6(CSPP1):c.475A>G (p.Ser159Gly) rs1554569071

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