ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 2A2

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00190
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys) rs369762154 0.00011
NM_014874.4(MFN2):c.445G>A (p.Glu149Lys) rs754016178 0.00002
NM_014874.4(MFN2):c.1253G>A (p.Arg418Gln) rs766998571 0.00001
NM_014874.4(MFN2):c.1822G>A (p.Ala608Thr) rs1639431440 0.00001
NM_014874.4(MFN2):c.2258dup (p.Gln754fs) rs773371488 0.00001
NM_018706.7(DHTKD1):c.1228C>T (p.Arg410Ter) rs397514534 0.00001
NM_000701.8(ATP1A1):c.143T>G (p.Leu48Arg) rs1553190285
NM_000701.8(ATP1A1):c.1775T>C (p.Ile592Thr) rs1553192086
NM_000701.8(ATP1A1):c.1789G>A (p.Ala597Thr)
NM_000701.8(ATP1A1):c.1798C>A (p.Pro600Thr) rs1553192091
NM_000701.8(ATP1A1):c.1798C>G (p.Pro600Ala) rs1553192091
NM_000701.8(ATP1A1):c.1801_1802delinsTT (p.Asp601Phe)
NM_000701.8(ATP1A1):c.2432A>C (p.Asp811Ala) rs1553192783
NM_014874.4(MFN2):c.1199G>C (p.Arg400Pro) rs138072432
NM_014874.4(MFN2):c.1385A>G (p.Tyr462Cys) rs2100849130
NM_014874.4(MFN2):c.1436C>G (p.Ser479Cys) rs1639333679
NM_014874.4(MFN2):c.1555C>T (p.Arg519Cys) rs369140232
NM_014874.4(MFN2):c.1615G>A (p.Glu539Lys)
NM_014874.4(MFN2):c.19C>T (p.Arg7Ter) rs1557515779
NM_014874.4(MFN2):c.2096T>C (p.Leu699Pro)
NM_014874.4(MFN2):c.2120G>A (p.Arg707Gln)
NM_014874.4(MFN2):c.2229T>G (p.Ser743Arg) rs1569890121
NM_014874.4(MFN2):c.2254T>A (p.Tyr752Asn)
NM_014874.4(MFN2):c.271G>A (p.Val91Met) rs1557519001
NM_014874.4(MFN2):c.286C>A (p.His96Asn) rs1569816382
NM_014874.4(MFN2):c.321T>G (p.Asn107Lys) rs1638897505
NM_014874.4(MFN2):c.515A>G (p.Gln172Arg) rs1638957491
NM_014874.4(MFN2):c.624G>T (p.Glu208Asp) rs1162977959
NM_014874.4(MFN2):c.667T>C (p.Phe223Leu) rs1639045962
NM_014874.4(MFN2):c.781G>C (p.Asp261His) rs2100832682
NM_014874.4(MFN2):c.824G>C (p.Arg275Pro)
NM_014874.4(MFN2):c.919A>G (p.Lys307Glu) rs1639171700
NM_018706.7(DHTKD1):c.1455T>G (p.Tyr485Ter) rs606231237
NM_018706.7(DHTKD1):c.1A>G (p.Met1Val) rs1564385081

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