List of variants studied for Phytanic acid storage disease by Counsyl

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln)	rs62619919	0.00690
NM_006214.4(PHYH):c.678+5G>T	rs201499815	0.00049
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp)	rs104894178	0.00007
NM_006214.4(PHYH):c.1_24dup (p.Met1_Ala8dup)	rs1554785878
NM_006214.4(PHYH):c.414+2T>C	rs1554784939
NM_006214.4(PHYH):c.621_623del (p.Val208del)	rs755838466

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