ClinVar Miner

List of variants reported as likely benign for Griscelli syndrome type 2

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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_183235.3(RAB27A):c.*2160A>G rs62020099 0.00739
NM_183235.3(RAB27A):c.*132G>A rs77014779 0.00511
NM_183235.3(RAB27A):c.-142-86A>T rs191174694 0.00165
NM_183235.3(RAB27A):c.*2216A>G rs150526064 0.00158
NM_183235.3(RAB27A):c.*725C>T rs116903039 0.00054
NM_183235.3(RAB27A):c.418C>G (p.Gln140Glu) rs150463407 0.00031
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln) rs182849552 0.00022
NM_183235.3(RAB27A):c.*668A>G rs118003408 0.00016
NM_183235.3(RAB27A):c.255G>T (p.Thr85=) rs147130708 0.00006
NM_183235.3(RAB27A):c.468-4C>T rs371060436 0.00006
NM_183235.3(RAB27A):c.276T>C (p.Ala92=) rs376589113 0.00005
NM_183235.3(RAB27A):c.168T>C (p.Ser56=) rs376232909 0.00004
NM_183235.3(RAB27A):c.252A>G (p.Leu84=) rs4340274 0.00003
NM_183235.3(RAB27A):c.344-10A>G rs199702031 0.00003
NM_183235.3(RAB27A):c.453C>T (p.Leu151=) rs753732362 0.00003
NM_183235.3(RAB27A):c.468-16T>C rs747032887 0.00003
NM_183235.3(RAB27A):c.474C>T (p.Pro158=) rs777485094 0.00003
NM_183235.3(RAB27A):c.153+20A>G rs1370109364 0.00002
NM_183235.3(RAB27A):c.621G>A (p.Thr207=) rs764546558 0.00002
NM_183235.3(RAB27A):c.126G>A (p.Val42=) rs1356387047 0.00001
NM_183235.3(RAB27A):c.148A>C (p.Arg50=) rs767963780 0.00001
NM_183235.3(RAB27A):c.153+10A>G rs774986160 0.00001
NM_183235.3(RAB27A):c.153+12A>T rs770930489 0.00001
NM_183235.3(RAB27A):c.159C>T (p.Tyr53=) rs529088883 0.00001
NM_183235.3(RAB27A):c.165C>T (p.Ala55=) rs765203586 0.00001
NM_183235.3(RAB27A):c.239+15G>C rs760864329 0.00001
NM_183235.3(RAB27A):c.261G>A (p.Ala87=) rs779504249 0.00001
NM_183235.3(RAB27A):c.344-13C>G rs1171254261 0.00001
NM_183235.3(RAB27A):c.*1493T>A rs149948399
NM_183235.3(RAB27A):c.-142-65C>G rs150033129
NM_183235.3(RAB27A):c.153+14C>A
NM_183235.3(RAB27A):c.154-7G>A
NM_183235.3(RAB27A):c.154-7G>C
NM_183235.3(RAB27A):c.15T>C (p.Asp5=) rs952920589
NM_183235.3(RAB27A):c.167G>A (p.Ser56Asn) rs540520068
NM_183235.3(RAB27A):c.174G>A (p.Pro58=) rs910190895
NM_183235.3(RAB27A):c.192A>G (p.Arg64=)
NM_183235.3(RAB27A):c.195C>G (p.Gly65=) rs897453247
NM_183235.3(RAB27A):c.239+19T>C rs1481724263
NM_183235.3(RAB27A):c.239+9T>A
NM_183235.3(RAB27A):c.239+9T>C
NM_183235.3(RAB27A):c.240-17T>G
NM_183235.3(RAB27A):c.240-5C>T rs750942183
NM_183235.3(RAB27A):c.240-6T>G rs1895913515
NM_183235.3(RAB27A):c.240-8G>A rs928130000
NM_183235.3(RAB27A):c.240-9T>C rs758629648
NM_183235.3(RAB27A):c.255G>A (p.Thr85=) rs147130708
NM_183235.3(RAB27A):c.288T>C (p.Leu96=)
NM_183235.3(RAB27A):c.289C>T (p.Leu97=) rs1354193730
NM_183235.3(RAB27A):c.309T>C (p.Asn103=)
NM_183235.3(RAB27A):c.33G>A (p.Lys11=)
NM_183235.3(RAB27A):c.342A>T (p.Ile114=) rs1895903776
NM_183235.3(RAB27A):c.343+10A>G
NM_183235.3(RAB27A):c.343+11T>C
NM_183235.3(RAB27A):c.343+17C>T
NM_183235.3(RAB27A):c.344-7T>C
NM_183235.3(RAB27A):c.351A>G (p.Leu117=)
NM_183235.3(RAB27A):c.390G>A (p.Leu130=)
NM_183235.3(RAB27A):c.396A>G (p.Gly132=)
NM_183235.3(RAB27A):c.468-14T>C
NM_183235.3(RAB27A):c.468-7C>A
NM_183235.3(RAB27A):c.489T>C (p.Ser163=) rs2140891719
NM_183235.3(RAB27A):c.519A>G (p.Ala173=) rs1566893120
NM_183235.3(RAB27A):c.532C>T (p.Leu178=)
NM_183235.3(RAB27A):c.561G>A (p.Arg187=)
NM_183235.3(RAB27A):c.57T>C (p.Gly19=)
NM_183235.3(RAB27A):c.593T>C (p.Val198Ala) rs554967424
NM_183235.3(RAB27A):c.597G>A (p.Val199=) rs1894604106
NM_183235.3(RAB27A):c.612T>C (p.His204=)
NM_183235.3(RAB27A):c.87T>C (p.Tyr29=)
NM_183235.3(RAB27A):c.93T>C (p.Asp31=)

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