ClinVar Miner

List of variants in gene CHCHD10 studied for Frontotemporal dementia and/or amyotrophic lateral sclerosis 2

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_213720.3(CHCHD10):c.261+11A>G rs131444 0.92009
NM_213720.3(CHCHD10):c.48A>C (p.Pro16=) rs179468 0.91291
NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser) rs551521196 0.00237
NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu) rs775332895 0.00016
NM_213720.3(CHCHD10):c.46C>T (p.Pro16Ser) rs927168789 0.00001
NM_213720.3(CHCHD10):c.176C>T (p.Ser59Leu) rs587777574
NM_213720.3(CHCHD10):c.312C>T (p.Tyr104=) rs9153
NM_213720.3(CHCHD10):c.349A>T (p.Ser117Cys) rs931085449
NM_213720.3(CHCHD10):c.409+27G>C rs140182
NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu) rs730880030
NM_213720.3(CHCHD10):c.82C>T (p.Pro28Ser) rs2145927205

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