ClinVar Miner

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

Included ClinVar conditions (92):
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ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_001005373.4(LRSAM1):c.952A>G (p.Asn318Asp) rs1539567 0.75123
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) rs1049402 0.70073
NM_001605.3(AARS1):c.671+3A>G rs74024185 0.07668
NM_001605.3(AARS1):c.824G>A (p.Gly275Asp) rs11537667 0.07667
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855 0.00718
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile) rs148355156 0.00591
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00255
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) rs41278630 0.00221
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser) rs187864727 0.00172
NM_020647.4(JPH1):c.638G>C (p.Arg213Pro) rs201314759 0.00006
NM_030973.4(MED25):c.418C>T (p.Arg140Trp) rs781140315 0.00006
NM_021625.5(TRPV4):c.1885G>A (p.Ala629Thr) rs200838499 0.00005
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp) rs121909090 0.00001
NM_001605.3(AARS1):c.312G>A (p.Trp104Ter) rs1398433261 0.00001
NM_014874.4(MFN2):c.2258dup (p.Gln754fs) rs773371488 0.00001
NM_030973.4(MED25):c.1366C>T (p.Gln456Ter) rs758524310 0.00001
NM_030973.4(MED25):c.1396C>T (p.Arg466Trp) rs759187460 0.00001
NM_000701.8(ATP1A1):c.1799C>G (p.Pro600Arg) rs2101055022
NM_001005373.4(LRSAM1):c.1037_1040del (p.Asn346fs) rs1588121150
NM_001005373.4(LRSAM1):c.2084G>A (p.Cys695Tyr) rs2132133868
NM_001303256.3(MORC2):c.2380+1G>A rs113045177
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503
NM_001303256.3(MORC2):c.79G>A (p.Glu27Lys) rs1602510200
NM_001376.5(DYNC1H1):c.11824C>T (p.Pro3942Ser) rs1006593304
NM_001376.5(DYNC1H1):c.295A>G (p.Ile99Val) rs1595595758
NM_001376.5(DYNC1H1):c.3961-2A>G rs1595608413
NM_001376.5(DYNC1H1):c.7705G>A (p.Val2569Met) rs368463825
NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly) rs201272954
NM_001376.5(DYNC1H1):c.944G>A (p.Ser315Asn) rs1595597963
NM_001376.5(DYNC1H1):c.9790C>A (p.Leu3264Met) rs373682811
NM_001605.3(AARS1):c.2192C>G (p.Ser731Trp) rs150873930
NM_001605.3(AARS1):c.977G>C (p.Arg326Pro) rs2152160758
NM_006158.5(NEFL):c.506dup (p.Thr170fs) rs2117255104
NM_006158.5(NEFL):c.54C>G (p.Tyr18Ter) rs1431523432
NM_014874.4(MFN2):c.1091G>T (p.Arg364Leu) rs879254011
NM_014874.4(MFN2):c.19C>T (p.Arg7Ter) rs1557515779
NM_014874.4(MFN2):c.286C>A (p.His96Asn) rs1569816382
NM_014874.4(MFN2):c.497C>T (p.Ala166Val) rs1557522849
NM_014874.4(MFN2):c.616A>G (p.Thr206Ala) rs1569842296
NM_014874.4(MFN2):c.638T>A (p.Ile213Asn) rs1557524703
NM_014874.4(MFN2):c.746C>T (p.Ser249Phe) rs794729198
NM_014874.4(MFN2):c.839G>C (p.Arg280Pro) rs28940294
NM_021625.5(TRPV4):c.549G>C (p.Glu183Asp) rs141908793

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