ClinVar Miner

List of variants studied for peripheral neuropathy, autosomal recessive, with or without impaired intellectual development by Revvity Omics, Revvity

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_003906.5(MCM3AP):c.5197G>T (p.Gly1733Cys) rs564457343 0.00012
NM_003906.5(MCM3AP):c.2407G>A (p.Glu803Lys) rs146488499 0.00006
NM_003906.5(MCM3AP):c.5831C>T (p.Thr1944Met) rs141098252 0.00005
NM_003906.5(MCM3AP):c.3452G>A (p.Arg1151Gln)
NM_003906.5(MCM3AP):c.3684_3695del (p.Ala1229_Thr1232del)
NM_003906.5(MCM3AP):c.4204G>A (p.Asp1402Asn)
NM_003906.5(MCM3AP):c.589G>C (p.Val197Leu) rs147601190

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