ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome 10

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter) rs758903488 0.00001
NM_003611.3(OFD1):c.149A>G (p.His50Arg) rs863225213 0.00001
NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs) rs312262868
NM_003611.3(OFD1):c.121C>T (p.Arg41Ter) rs312262810
NM_003611.3(OFD1):c.1411+1G>A rs2147027077
NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter) rs863225212
NM_003611.3(OFD1):c.2767del (p.Glu923fs) rs312262894
NM_003611.3(OFD1):c.277G>T (p.Val93Phe) rs863225211
NM_003611.3(OFD1):c.2844_2850del (p.Lys948fs) rs312262895
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
NM_003611.3(OFD1):c.599T>C (p.Leu200Pro) rs2047299277
NM_003611.3(OFD1):c.689_706del (p.Ile230_Lys235del) rs398122866
NM_003611.3(OFD1):c.710dup (p.Tyr238fs) rs312262845

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