ClinVar Miner

List of variants in gene combination IGHMBP2, LOC126861245 reported as uncertain significance for Charcot-Marie-Tooth disease axonal type 2S

Included ClinVar conditions (2):
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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_002180.3(IGHMBP2):c.1632+4C>T rs775832239 0.00005
NM_002180.3(IGHMBP2):c.1546C>T (p.Arg516Cys) rs757425203 0.00004
NM_002180.3(IGHMBP2):c.1560G>T (p.Leu520Phe) rs375645505 0.00003
NM_002180.3(IGHMBP2):c.1598G>A (p.Arg533His) rs369816416 0.00003
NM_002180.3(IGHMBP2):c.1605T>G (p.Ile535Met) rs1225363387 0.00003
NM_002180.3(IGHMBP2):c.1552G>A (p.Val518Ile) rs373828321 0.00002
NM_002180.3(IGHMBP2):c.1597C>T (p.Arg533Cys) rs374185933 0.00002
NM_002180.3(IGHMBP2):c.1627C>G (p.Leu543Val) rs772592429 0.00002
NM_002180.3(IGHMBP2):c.1547G>A (p.Arg516His) rs373017768 0.00001
NM_002180.3(IGHMBP2):c.1561C>T (p.His521Tyr) rs759965718 0.00001
NM_002180.3(IGHMBP2):c.1562A>G (p.His521Arg) rs1555247556
NM_002180.3(IGHMBP2):c.1564A>G (p.Ile522Val) rs1859447330
NM_002180.3(IGHMBP2):c.1568A>G (p.Gln523Arg) rs1594452962
NM_002180.3(IGHMBP2):c.1591C>A (p.Pro531Thr) rs756985703

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