List of variants in gene RAB27A studied for Autoinflammatory syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_183235.3(RAB27A):c.594G>A (p.Val198=)	rs141222527	0.00374
NM_183235.3(RAB27A):c.468-3C>T	rs113895512	0.00237
NM_183235.3(RAB27A):c.-93G>T	rs181491869	0.00151
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.559C>T (p.Arg187Trp)	rs144946000	0.00016
NM_183235.3(RAB27A):c.17A>G (p.Tyr6Cys)	rs145253993	0.00014
NM_183235.3(RAB27A):c.307A>G (p.Asn103Asp)	rs144492641	0.00013
NM_183235.3(RAB27A):c.172C>T (p.Pro58Ser)	rs201284258	0.00009
NM_183235.3(RAB27A):c.543A>G (p.Ile181Met)	rs139025012	0.00009
NM_183235.3(RAB27A):c.-3A>C	rs553316776	0.00008
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter)	rs200956636	0.00006
NM_183235.3(RAB27A):c.551G>A (p.Arg184Gln)	rs141362723	0.00006
NM_183235.3(RAB27A):c.11G>T (p.Gly4Val)	rs539575657	0.00003
NM_183235.3(RAB27A):c.275C>T (p.Ala92Val)	rs137960099	0.00003
NM_183235.3(RAB27A):c.453C>T (p.Leu151=)	rs753732362	0.00003
NM_183235.3(RAB27A):c.239+1G>T	rs761810607	0.00002
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys)	rs753966933	0.00002
NM_183235.3(RAB27A):c.130A>G (p.Ile44Val)	rs763762181	0.00001
NM_183235.3(RAB27A):c.153+10A>G	rs774986160	0.00001
NM_183235.3(RAB27A):c.209T>C (p.Leu70Pro)	rs1371360853	0.00001
NM_183235.3(RAB27A):c.400_401del (p.Lys134fs)	rs755338751	0.00001
NM_183235.3(RAB27A):c.136T>A (p.Phe46Ile)	rs2140989874
NM_183235.3(RAB27A):c.167G>A (p.Ser56Asn)	rs540520068
NM_183235.3(RAB27A):c.260C>T (p.Ala87Val)	rs201697259
NM_183235.3(RAB27A):c.2T>C (p.Met1Thr)	rs141281020
NM_183235.3(RAB27A):c.422_424del (p.Arg141_Val142delinsIle)	rs1478402636
NM_183235.3(RAB27A):c.596T>A (p.Val199Glu)	rs778390086
NM_183235.3(RAB27A):c.609T>C (p.Gly203=)	rs2140890943

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