ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
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.1586G>A (p.Arg529His) rs80338923 0.00002
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys) rs80338925 0.00002
NM_024577.4(SH3TC2):c.2577T>A (p.Tyr859Ter) rs758871406 0.00001
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462 0.00001
NM_024577.4(SH3TC2):c.1378C>T (p.Gln460Ter) rs1580901350
NM_024577.4(SH3TC2):c.1585_1587delinsTGG (p.Arg529Trp) rs863224781
NM_024577.4(SH3TC2):c.1586_1587delinsAG (p.Arg529Gln) rs863224454
NM_024577.4(SH3TC2):c.1712T>C (p.Leu571Pro) rs1580900970
NM_024577.4(SH3TC2):c.1834G>T (p.Glu612Ter)
NM_024577.4(SH3TC2):c.1A>G (p.Met1Val) rs864309709
NM_024577.4(SH3TC2):c.2431C>T (p.Gln811Ter) rs1580900150
NM_024577.4(SH3TC2):c.2640del (p.Asn881fs) rs1561764569
NM_024577.4(SH3TC2):c.2838_2850dup (p.Leu951fs) rs2127396985
NM_024577.4(SH3TC2):c.3291del (p.Thr1098fs) rs1580889913
NM_024577.4(SH3TC2):c.3472dup (p.Val1158fs) rs2127392454
NM_024577.4(SH3TC2):c.3676-8G>A rs772823083
NM_024577.4(SH3TC2):c.731+1G>A
NM_024577.4(SH3TC2):c.805+2T>C rs139052887

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