ClinVar Miner

List of variants studied for Joubert syndrome 21 by Invitae

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Total variants: 23
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HGVS dbSNP
NC_000008.11:g.(?_67111952)_(67195613_?)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.159C>T (p.Ala53=) rs370003497
NM_024790.6(CSPP1):c.1660C>A (p.His554Asn)
NM_024790.6(CSPP1):c.1678G>A (p.Val560Ile) rs199608505
NM_024790.6(CSPP1):c.167_168delAA (p.Lys56Serfs)
NM_024790.6(CSPP1):c.1962T>C (p.Thr654=) rs114177619
NM_024790.6(CSPP1):c.1968G>C (p.Leu656Phe)
NM_024790.6(CSPP1):c.2107A>G (p.Ser703Gly) rs201316149
NM_024790.6(CSPP1):c.2253A>G (p.Glu751=) rs199962946
NM_024790.6(CSPP1):c.2279C>A (p.Ala760Glu) rs376549634
NM_024790.6(CSPP1):c.2377-8_2377-4delTTTTA rs528357182
NM_024790.6(CSPP1):c.2512dup (p.Glu838Glyfs) rs1554604482
NM_024790.6(CSPP1):c.2525delA (p.His842Profs)
NM_024790.6(CSPP1):c.2708delA (p.Asn903Metfs) rs863225190
NM_024790.6(CSPP1):c.2815A>T (p.Lys939Ter)
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.3298T>C (p.Trp1100Arg) rs1808140
NM_024790.6(CSPP1):c.3478C>T (p.Pro1160Ser) rs200161440
NM_024790.6(CSPP1):c.3494_3497dup (p.His1166Glnfs)
NM_024790.6(CSPP1):c.475A>G (p.Ser159Gly) rs1554569071

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