ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 4 by Genesis Genome Database

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_024577.4(SH3TC2):c.2552G>A (p.Arg851Gln) rs751621364 0.00036
NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter) rs142902080 0.00006
NM_001113491.2(SEPTIN9):c.722-6624T>C rs746223748 0.00005
NM_014874.4(MFN2):c.1759C>T (p.Pro587Ser) rs771675874 0.00003
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His) rs80338923 0.00002
NM_021625.5(TRPV4):c.1529G>A (p.Arg510Gln) rs1191951496 0.00001
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930 0.00001
NM_181882.3(PRX):c.1102C>T (p.Arg368Ter) rs104894715 0.00001
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter) rs104894708 0.00001
NM_001005373.4(LRSAM1):c.2047-3C>T rs1588144581
NM_001303256.3(MORC2):c.1369+8_1369+9del rs1602485471
NM_001365951.3(KIF1B):c.2115+7159A>G rs1569777868
NM_001365951.3(KIF1B):c.2115+7161C>A rs766794209
NM_001376.5(DYNC1H1):c.6406-4G>A rs374602014
NM_001540.5(HSPB1):c.365-67C>T rs1583965825
NM_001540.5(HSPB1):c.365-6C>G rs200902768
NM_002180.3(IGHMBP2):c.1588_1589dup (p.Pro531fs) rs1594453023
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014874.4(MFN2):c.271G>T (p.Val91Leu) rs1557519001
NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter) rs761035569
NM_024577.4(SH3TC2):c.1894G>A (p.Glu632Lys) rs1580900765
NM_024577.4(SH3TC2):c.1897del (p.Ala633fs) rs1064797314
NM_181882.3(PRX):c.3722G>A (p.Gly1241Asp) rs139120811
NM_181882.3(PRX):c.4059GGA[6] (p.Glu1361del) rs139624657

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