ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease by GenomeConnect, ClinGen

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_000304.4(PMP22):c.362A>G (p.His121Arg) rs1567698985
NM_000530.8(MPZ):c.306del (p.Asp104fs) rs281865125
NM_000530.8(MPZ):c.703_705AAG[1] (p.Lys236del) rs755446743
NM_001303256.3(MORC2):c.1379G>A (p.Gly460Glu) rs1569192110
NM_001316772.1(GARS1):c.-207C>G rs903029869
NM_001605.2(AARS1):c.1685C>T (p.Thr562Ile) rs148355156
NM_003172.4(SURF1):c.588+1G>A rs1219762677
NM_006070.6(TFG):c.302A>G (p.Gln101Arg)
NM_014365.2(HSPB8):c.208C>T (p.Pro70Ser)
NM_018706.7(DHTKD1):c.2747A>G (p.Lys916Arg)
NM_020631.5(PLEKHG5):c.2233C>A (p.Pro745Thr) rs756501907
NM_021625.4(TRPV4):c.617G>A (p.Arg206His)
NM_138361.5(LRSAM1):c.1225C>G (p.Gln409Glu) rs149540339
NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555
NM_170707.4(LMNA):c.1564T>C (p.Cys522Arg)

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