ClinVar Miner

List of variants reported as uncertain significance for FTDALS2 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NC_000022.10:g.(?_24108011)_(24110169_?)dup
NC_000022.10:g.(?_24108174)_(24110081_?)dup
NC_000022.10:g.(?_24109551)_(24110169_?)del
NM_213720.3(CHCHD10):c.113C>T (p.Pro38Leu) rs564997204
NM_213720.3(CHCHD10):c.151A>G (p.Thr51Ala)
NM_213720.3(CHCHD10):c.190G>A (p.Val64Ile)
NM_213720.3(CHCHD10):c.196G>A (p.Gly66Ser)
NM_213720.3(CHCHD10):c.197G>A (p.Gly66Asp)
NM_213720.3(CHCHD10):c.214G>A (p.Ala72Thr) rs542541060
NM_213720.3(CHCHD10):c.214G>C (p.Ala72Pro)
NM_213720.3(CHCHD10):c.224G>A (p.Gly75Glu)
NM_213720.3(CHCHD10):c.274G>A (p.Ala92Thr) rs374353973
NM_213720.3(CHCHD10):c.276T>A (p.Ala92=) rs1252496774
NM_213720.3(CHCHD10):c.312C>A (p.Tyr104Ter)
NM_213720.3(CHCHD10):c.312C>G (p.Tyr104Ter)
NM_213720.3(CHCHD10):c.31C>G (p.Arg11Gly)
NM_213720.3(CHCHD10):c.327C>G (p.Phe109Leu) rs1438034155
NM_213720.3(CHCHD10):c.332A>G (p.Asp111Gly)
NM_213720.3(CHCHD10):c.349A>T (p.Ser117Cys) rs931085449
NM_213720.3(CHCHD10):c.377G>A (p.Ser126Asn)
NM_213720.3(CHCHD10):c.386T>C (p.Leu129Pro) rs1569149526
NM_213720.3(CHCHD10):c.410G>T (p.Gly137Val)
NM_213720.3(CHCHD10):c.42C>T (p.Ser14=)

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