ClinVar Miner

List of variants in gene RIMS1 reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_014989.7(RIMS1):c.1083A>G (p.Leu361=) rs2463730 0.97497
NM_014989.7(RIMS1):c.1209G>A (p.Ala403=) rs114505309 0.27986
NM_014989.7(RIMS1):c.4983G>A (p.Pro1661=) rs377743730 0.00237
NM_014989.7(RIMS1):c.1230C>G (p.Gly410=) rs544554763 0.00200
NM_014989.7(RIMS1):c.2699-8T>C rs149883454 0.00100
NM_014989.7(RIMS1):c.1764A>G (p.Gln588=) rs192179523 0.00088
NM_014989.7(RIMS1):c.3399-4A>G rs368216570 0.00017
NM_014989.7(RIMS1):c.169G>C (p.Val57Leu) rs200005095 0.00010
NM_014989.7(RIMS1):c.2894C>T (p.Pro965Leu) rs752875047 0.00010
NM_014989.7(RIMS1):c.1533G>A (p.Pro511=) rs201473375 0.00006
NM_014989.7(RIMS1):c.4506-5G>A rs201556693 0.00006
NM_014989.7(RIMS1):c.28C>T (p.Pro10Ser) rs200935038 0.00005
NM_014989.7(RIMS1):c.3785C>T (p.Ser1262Leu) rs757548948 0.00004
NM_014989.7(RIMS1):c.2107T>A (p.Ser703Thr) rs772471723
NM_014989.7(RIMS1):c.4606A>G (p.Thr1536Ala) rs794727553

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