ClinVar Miner

List of variants studied for ataxia neuropathy spectrum by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_002693.3(POLG):c.328C>T (p.His110Tyr) rs139599587 0.00026
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp) rs200257554 0.00017
NM_002693.3(POLG):c.3075G>A (p.Leu1025=) rs146404260 0.00008
NM_002693.3(POLG):c.331G>C (p.Gly111Arg) rs760170099 0.00004
NM_002693.3(POLG):c.3323A>T (p.Tyr1108Phe) rs765949668 0.00001
NM_002693.3(POLG):c.862C>T (p.Arg288Cys) rs564582352 0.00001
NM_002693.3(POLG):c.2466C>G (p.Pro822=) rs1235161601
NM_002693.3(POLG):c.3482+6C>T rs55779802

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