ClinVar Miner

List of variants studied for FTDALS2 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
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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.100C>T (p.Pro34Ser) rs551521196
NM_213720.3(CHCHD10):c.113C>T (p.Pro38Leu) rs564997204
NM_213720.3(CHCHD10):c.136G>T (p.Ala46Ser) rs200831077
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.21C>T (p.Ser7=) rs984321947
NM_213720.3(CHCHD10):c.224G>A (p.Gly75Glu)
NM_213720.3(CHCHD10):c.234G>A (p.Ser78=) rs111527940
NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu) rs775332895
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.286C>A (p.Pro96Thr) rs111677724
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.330G>A (p.Leu110=) rs138183274
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.378C>T (p.Ser126=) rs199579266
NM_213720.3(CHCHD10):c.386T>C (p.Leu129Pro) rs1569149526
NM_213720.3(CHCHD10):c.403T>C (p.Tyr135His) rs145649831
NM_213720.3(CHCHD10):c.41+7G>A rs141526972
NM_213720.3(CHCHD10):c.410G>T (p.Gly137Val)
NM_213720.3(CHCHD10):c.42-7C>G rs567239313
NM_213720.3(CHCHD10):c.42-9C>A rs1392906115
NM_213720.3(CHCHD10):c.42C>T (p.Ser14=)
NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu) rs730880030

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