ClinVar Miner

List of variants in gene RSPH1 reported as likely benign for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_080860.4(RSPH1):c.650T>G (p.Leu217Trp) rs138007679 0.00716
NM_080860.4(RSPH1):c.870G>A (p.Met290Ile) rs140450252 0.00132
NM_080860.4(RSPH1):c.683C>T (p.Pro228Leu) rs149604283 0.00104
NM_080860.4(RSPH1):c.877+7T>A rs116369489 0.00080
NM_080860.4(RSPH1):c.907A>G (p.Arg303Gly) rs150629342 0.00072
NM_080860.4(RSPH1):c.315C>T (p.Tyr105=) rs144037391 0.00035
NM_080860.4(RSPH1):c.732A>G (p.Ala244=) rs141241740 0.00022
NM_080860.4(RSPH1):c.574-18T>C rs200788622 0.00020
NM_080860.4(RSPH1):c.502-18G>A rs371221411 0.00017
NM_080860.4(RSPH1):c.684G>A (p.Pro228=) rs138330014 0.00017
NM_080860.4(RSPH1):c.714T>C (p.Ala238=) rs141840867 0.00016
NM_080860.4(RSPH1):c.774C>T (p.Phe258=) rs144996547 0.00015
NM_080860.4(RSPH1):c.649T>C (p.Leu217=) rs142072750 0.00013
NM_080860.4(RSPH1):c.390C>T (p.Tyr130=) rs529633380 0.00006
NM_080860.4(RSPH1):c.447G>A (p.Thr149=) rs200870072 0.00006
NM_080860.4(RSPH1):c.483C>A (p.Gly161=) rs371312378 0.00006
NM_080860.4(RSPH1):c.651G>A (p.Leu217=) rs747395137 0.00005
NM_080860.4(RSPH1):c.501+9A>G rs373972724 0.00004
NM_080860.4(RSPH1):c.693G>A (p.Thr231=) rs372338741 0.00004
NM_080860.4(RSPH1):c.513T>C (p.Pro171=) rs767684217 0.00003
NM_080860.4(RSPH1):c.727+16G>A rs571130499 0.00003
NM_080860.4(RSPH1):c.398C>T (p.Thr133Met) rs529237191 0.00002
NM_080860.4(RSPH1):c.399G>A (p.Thr133=) rs760016966 0.00002
NM_080860.4(RSPH1):c.798T>C (p.Pro266=) rs577891231 0.00002
NM_080860.4(RSPH1):c.531T>C (p.Asp177=) rs755284624 0.00001
NM_080860.4(RSPH1):c.636C>T (p.Thr212=) rs765328542 0.00001
NM_080860.4(RSPH1):c.741C>T (p.Pro247=) rs142166675 0.00001
NM_080860.4(RSPH1):c.877+13C>T rs747107857 0.00001
NM_080860.4(RSPH1):c.18G>C (p.Ser6=)
NM_080860.4(RSPH1):c.300C>T (p.His100=)
NM_080860.4(RSPH1):c.306T>C (p.His102=)
NM_080860.4(RSPH1):c.309C>T (p.Gly103=)
NM_080860.4(RSPH1):c.365+10C>T rs962821435
NM_080860.4(RSPH1):c.366-17C>T
NM_080860.4(RSPH1):c.372G>A (p.Gly124=)
NM_080860.4(RSPH1):c.429C>T (p.Asn143=)
NM_080860.4(RSPH1):c.501+13G>A
NM_080860.4(RSPH1):c.501+17T>C
NM_080860.4(RSPH1):c.502-4G>A
NM_080860.4(RSPH1):c.537G>T (p.Gly179=)
NM_080860.4(RSPH1):c.549T>C (p.His183=) rs780989649
NM_080860.4(RSPH1):c.573+10G>A
NM_080860.4(RSPH1):c.637C>A (p.Gln213Lys) rs146298259
NM_080860.4(RSPH1):c.648A>G (p.Glu216=) rs2054078510
NM_080860.4(RSPH1):c.655C>T (p.Leu219=)
NM_080860.4(RSPH1):c.705C>T (p.Gly235=)
NM_080860.4(RSPH1):c.727+11C>A
NM_080860.4(RSPH1):c.727+11_727+83del
NM_080860.4(RSPH1):c.727+15C>G rs202146973
NM_080860.4(RSPH1):c.727+18_727+19insGGGCACCCCCGGGTGTGGGGTGGAGGGGGCAGAGGGTGTA
NM_080860.4(RSPH1):c.727+20T>G
NM_080860.4(RSPH1):c.728-20T>G
NM_080860.4(RSPH1):c.795G>A (p.Arg265=) rs2054043655
NM_080860.4(RSPH1):c.816C>T (p.Asp272=)
NM_080860.4(RSPH1):c.819C>T (p.Val273=) rs1555875193
NM_080860.4(RSPH1):c.877+14G>A
NM_080860.4(RSPH1):c.878-4T>G
NM_080860.4(RSPH1):c.912G>A (p.Gln304=)

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