ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease axonal type 2N

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_001605.2(AARS1):c.1685C>T (p.Thr562Ile) rs148355156
NM_001605.2(AARS1):c.1762C>T (p.Gln588Ter) rs146946034
NM_001605.2(AARS1):c.211A>T (p.Asn71Tyr) rs387906792
NM_001605.2(AARS1):c.2186G>A (p.Arg729Gln) rs142850278
NM_001605.2(AARS1):c.2521-3C>T rs200586605
NM_001605.2(AARS1):c.2715T>C (p.Val905=) rs4081753
NM_001605.2(AARS1):c.2791G>A (p.Gly931Ser) rs149377346
NM_001605.2(AARS1):c.2900A>T (p.Lys967Met) rs35744709
NM_001605.2(AARS1):c.328T>C (p.Phe110Leu) rs1555542415
NM_001605.2(AARS1):c.618G>T (p.Gln206His)
NM_001605.2(AARS1):c.903C>T (p.His301=) rs2070203
NM_001605.2(AARS1):c.986G>A (p.Arg329His) rs267606621

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