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

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter)	rs200956636	0.00006
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys)	rs753966933	0.00002
NM_183235.3(RAB27A):c.121A>C (p.Thr41Pro)	rs1896186645
NM_183235.3(RAB27A):c.121A>G (p.Thr41Ala)	rs1896186645
NM_183235.3(RAB27A):c.220G>C (p.Asp74His)
NM_183235.3(RAB27A):c.229G>A (p.Gly77Arg)
NM_183235.3(RAB27A):c.239+3A>G	rs1595695268
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro)	rs104894497
NM_183235.3(RAB27A):c.259G>T (p.Ala87Ser)
NM_183235.3(RAB27A):c.260C>T (p.Ala87Val)	rs201697259
NM_183235.3(RAB27A):c.428T>C (p.Val143Ala)
NM_183235.3(RAB27A):c.467+1G>T
NM_183235.3(RAB27A):c.475T>C (p.Tyr159His)	rs1894614852
NM_183235.3(RAB27A):c.476A>G (p.Tyr159Cys)
NM_183235.3(RAB27A):c.509_510del (p.Ile170fs)
NM_183235.3(RAB27A):c.514_518del (p.Gln172fs)	rs767481076

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