ClinVar Miner

List of variants studied for mitochondrial DNA depletion syndrome by Undiagnosed Diseases Network, NIH

Included ClinVar conditions (58):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_002693.3(POLG):c.391T>C (p.Tyr131His) rs562847013 0.00027
NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu) rs267606959 0.00002
NM_001094.5(ASIC2):c.556-198516_556-198515insTTACCTGCAATGTGCTGGGTTATCTGTTCCTTCTCATTATCTTCCAGCTCTTCCCAGCCTTCCAGCTCTGTGAGGTCCTCGATYTTGTT
NM_002693.3(POLG):c.641C>T (p.Ala214Val) rs948866053
NM_006796.3(AFG3L2):c.1749G>A (p.Trp583Ter)
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile) rs727502823
NM_013975.4(LIG3):c.1209-2A>G

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