ClinVar Miner

List of variants studied for Griscelli syndrome by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NC_000015.9:g.(?_55516067)_(55516230_?)del
NC_000015.9:g.(?_55516067)_(55527152_?)del
NC_000015.9:g.(?_55526960)_(55527152_?)del
NM_183235.3(RAB27A):c.11G>T (p.Gly4Val)
NM_183235.3(RAB27A):c.167G>A (p.Ser56Asn) rs540520068
NM_183235.3(RAB27A):c.17A>G (p.Tyr6Cys) rs145253993
NM_183235.3(RAB27A):c.18_19del (p.Tyr6_Asp7delinsTer) rs1555394745
NM_183235.3(RAB27A):c.195C>G (p.Gly65=) rs897453247
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro) rs104894497
NM_183235.3(RAB27A):c.275C>T (p.Ala92Val) rs137960099
NM_183235.3(RAB27A):c.343+6del rs1277146219
NM_183235.3(RAB27A):c.365A>T (p.Tyr122Phe) rs1259290779
NM_183235.3(RAB27A):c.418C>G (p.Gln140Glu) rs150463407
NM_183235.3(RAB27A):c.419_420AG[2] (p.Arg141fs)
NM_183235.3(RAB27A):c.467+1G>C rs756071120
NM_183235.3(RAB27A):c.518C>G (p.Ala173Gly)
NM_183235.3(RAB27A):c.526A>T (p.Met176Leu) rs757760608
NM_183235.3(RAB27A):c.543A>G (p.Ile181Met)
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636
NM_183235.3(RAB27A):c.551G>A (p.Arg184Gln) rs141362723
NM_183235.3(RAB27A):c.559C>T (p.Arg187Trp)
NM_183235.3(RAB27A):c.620C>T (p.Thr207Met) rs151048993
NM_183235.3(RAB27A):c.621G>A (p.Thr207=) rs764546558
NM_183235.3(RAB27A):c.94G>C (p.Gly32Arg)
Single allele

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