ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2 by Mendelics

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP
NM_001005360.2(DNM2):c.1105C>T (p.Arg369Trp) rs121909090
NM_001303256.3(MORC2):c.2380+1G>A
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503
NM_001376.5(DYNC1H1):c.11824C>T (p.Pro3942Ser)
NM_001376.5(DYNC1H1):c.295A>G (p.Ile99Val)
NM_001376.5(DYNC1H1):c.3961-2A>G
NM_001376.5(DYNC1H1):c.7705G>A (p.Val2569Met)
NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly)
NM_001376.5(DYNC1H1):c.944G>A (p.Ser315Asn)
NM_001376.5(DYNC1H1):c.9790C>A (p.Leu3264Met)
NM_001605.2(AARS1):c.1685C>T (p.Thr562Ile) rs148355156
NM_001605.2(AARS1):c.671+3A>G rs74024185
NM_001605.2(AARS1):c.824G>A (p.Gly275Asp) rs11537667
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) rs1049402
NM_014874.3(MFN2):c.1403G>A (p.Arg468His) rs138382758
NM_014874.3(MFN2):c.497C>T (p.Ala166Val) rs1557522849
NM_014874.3(MFN2):c.746C>T (p.Ser249Phe) rs794729198
NM_014874.3(MFN2):c.892G>A (p.Gly298Arg) rs41278630
NM_014874.4(MFN2):c.1091G>T (p.Arg364Leu)
NM_014874.4(MFN2):c.19C>T (p.Arg7Ter)
NM_014874.4(MFN2):c.2258dup (p.Gln754fs)
NM_014874.4(MFN2):c.286C>A (p.His96Asn)
NM_014874.4(MFN2):c.616A>G (p.Thr206Ala)
NM_014874.4(MFN2):c.638T>A (p.Ile213Asn)
NM_014874.4(MFN2):c.839G>C (p.Arg280Pro)
NM_020647.4(JPH1):c.638G>C (p.Arg213Pro) rs201314759
NM_021625.4(TRPV4):c.1885G>A (p.Ala629Thr) rs200838499
NM_021625.4(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855
NM_021625.4(TRPV4):c.549G>C (p.Glu183Asp) rs141908793
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_138361.5(LRSAM1):c.1037_1040del (p.Asn346fs)
NM_138361.5(LRSAM1):c.952A>G (p.Asn318Asp) rs1539567

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