ClinVar Miner

List of variants in gene PEX16 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_004813.4(PEX16):c.695-6C>T rs372182266 0.00036
NM_004813.4(PEX16):c.461A>G (p.Asp154Gly) rs140695185 0.00025
NM_004813.4(PEX16):c.814C>T (p.Arg272Trp) rs560024236 0.00019
NM_004813.4(PEX16):c.877C>T (p.Arg293Cys) rs544053792 0.00013
NM_004813.4(PEX16):c.499G>A (p.Val167Met) rs147332976 0.00010
NM_004813.4(PEX16):c.946G>A (p.Val316Ile) rs775371916 0.00009
NM_004813.4(PEX16):c.588G>C (p.Glu196Asp) rs759501669 0.00004
NM_004813.4(PEX16):c.421A>G (p.Ile141Val) rs761426585 0.00003
NM_004813.4(PEX16):c.578A>G (p.Gln193Arg) rs761839307 0.00003
NM_004813.4(PEX16):c.844C>T (p.Leu282Phe) rs199767958 0.00003
NM_004813.4(PEX16):c.13C>T (p.Arg5Trp) rs768102300 0.00002
NM_004813.4(PEX16):c.419C>G (p.Pro140Arg) rs764641368 0.00002
NM_004813.4(PEX16):c.472A>G (p.Ser158Gly) rs1394054374 0.00002
NM_004813.4(PEX16):c.803G>A (p.Arg268Gln) rs376763841 0.00002
NM_004813.4(PEX16):c.540C>G (p.Asn180Lys) rs886048327 0.00001
NM_004813.4(PEX16):c.607C>A (p.His203Asn) rs747599205 0.00001
NM_004813.4(PEX16):c.610G>A (p.Glu204Lys) rs368553807 0.00001
NM_004813.4(PEX16):c.629C>T (p.Pro210Leu) rs565706311 0.00001
NM_004813.4(PEX16):c.752T>G (p.Val251Gly) rs759092071 0.00001
NM_004813.4(PEX16):c.802C>T (p.Arg268Trp) rs886044625 0.00001
NM_004813.4(PEX16):c.812G>A (p.Arg271Gln) rs769838583 0.00001
NM_004813.4(PEX16):c.962T>C (p.Met321Thr) rs758636115 0.00001
NM_004813.4(PEX16):c.1001G>A (p.Ser334Asn) rs2086762416
NM_004813.4(PEX16):c.238C>G (p.Gln80Glu) rs1244471687
NM_004813.4(PEX16):c.584G>T (p.Arg195Leu) rs959280173
NM_004813.4(PEX16):c.716G>A (p.Gly239Asp) rs2494894732
NM_004813.4(PEX16):c.71A>G (p.Gln24Arg) rs1404788997
NM_004813.4(PEX16):c.778C>A (p.Leu260Met) rs769033920
NM_004813.4(PEX16):c.814C>G (p.Arg272Gly) rs560024236
NM_004813.4(PEX16):c.862T>A (p.Ser288Thr) rs2494892150
NM_004813.4(PEX16):c.877C>A (p.Arg293Ser) rs544053792
NM_004813.4(PEX16):c.922G>A (p.Asp308Asn) rs749785179
NM_004813.4(PEX16):c.922G>C (p.Asp308His) rs749785179

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