ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease type 4C

Included ClinVar conditions (2):
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Minimum conflict level:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926 0.00003
NM_024577.4(SH3TC2):c.2710C>T (p.Arg904Ter) rs80338931 0.00003
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934 0.00003
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His) rs80338923 0.00002
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys) rs80338925 0.00002
NM_024577.4(SH3TC2):c.3650G>A (p.Gly1217Asp) rs758669363 0.00002
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930 0.00001
NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter) rs80338932 0.00001
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462 0.00001
NM_024577.4(SH3TC2):c.3627T>A (p.Tyr1209Ter) rs1248359114 0.00001
NM_024577.4(SH3TC2):c.1178-1G>A rs80338922
NM_024577.4(SH3TC2):c.1267G>T (p.Glu423Ter)
NM_024577.4(SH3TC2):c.1378C>T (p.Gln460Ter) rs1580901350
NM_024577.4(SH3TC2):c.1691A>G (p.Asp564Gly)
NM_024577.4(SH3TC2):c.1747_1748del (p.Arg583fs) rs80338924
NM_024577.4(SH3TC2):c.1856T>A (p.Val619Glu) rs1196218767
NM_024577.4(SH3TC2):c.1894_1897delinsAAA (p.Glu632fs) rs1580900758
NM_024577.4(SH3TC2):c.1897del (p.Ala633fs) rs1064797314
NM_024577.4(SH3TC2):c.2189del (p.Gly730fs) rs1580900473
NM_024577.4(SH3TC2):c.233_239del (p.Leu78fs) rs2127402263
NM_024577.4(SH3TC2):c.2599C>T (p.Gln867Ter) rs2127397072
NM_024577.4(SH3TC2):c.287C>T (p.Ser96Leu) rs2127401458
NM_024577.4(SH3TC2):c.3013G>T (p.Glu1005Ter) rs147895061
NM_024577.4(SH3TC2):c.3154C>T (p.Arg1052Ter) rs370115218
NM_024577.4(SH3TC2):c.3303del (p.Arg1101fs) rs864622664
NM_024577.4(SH3TC2):c.3341del (p.Pro1114fs) rs80338936
NM_024577.4(SH3TC2):c.3425_3435del (p.Tyr1142fs) rs1222150652
NM_024577.4(SH3TC2):c.3601C>T (p.Gln1201Ter) rs80338937
NM_024577.4(SH3TC2):c.3675+2dup rs1554120215
NM_024577.4(SH3TC2):c.383T>G (p.Leu128Ter) rs1754425628
NM_024577.4(SH3TC2):c.530-2A>G rs80338920
NM_024577.4(SH3TC2):c.54dup (p.Lys19Ter) rs1580917136
NM_024577.4(SH3TC2):c.58G>T (p.Glu20Ter) rs1580917130
NM_024577.4(SH3TC2):c.731+2T>G rs2127400622
NM_024577.4(SH3TC2):c.820_821insT (p.Lys274fs) rs879253859
NM_024577.4(SH3TC2):c.929dup (p.Ser312fs) rs2127399983
NM_024577.4(SH3TC2):c.974del (p.Asn325fs) rs1580907885

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