ClinVar Miner

List of variants in gene combination NPC1, RMC1 reported by Invitae

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Gene type:
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Total variants: 5
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HGVS dbSNP
NM_013326.5(RMC1):c.1098A>C (p.Ile366=) rs78871358
NM_013326.5(RMC1):c.1230C>G (p.Ala410=) rs141781475
NM_013326.5(RMC1):c.1500C>T (p.Tyr500=) rs34136453
NM_013326.5(RMC1):c.513G>A (p.Thr171=) rs7245127
NM_013326.5(RMC1):c.653+9G>A rs185178985

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