ClinVar Miner

List of variants studied for MRCS syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
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HGVS dbSNP
NM_001363592.1(BEST1):c.-121C>T rs562849665
NM_001363592.1(BEST1):c.-125G>A rs886048424
NM_001363592.1(BEST1):c.-221T>C rs972353
NM_001363592.1(BEST1):c.-329C>T rs972354
NM_001363592.1(BEST1):c.-373T>A rs117165769
NM_001363592.1(BEST1):c.-428C>T rs77151527
NM_001363592.1(BEST1):c.-536T>C rs137965157
NM_002032.3(FTH1):c.*222C>T rs17156609
NM_002032.3(FTH1):c.*319G>A rs75281081
NM_002032.3(FTH1):c.*389A>G rs1801327
NM_002032.3(FTH1):c.*396A>G rs565138844
NM_002032.3(FTH1):c.161A>G (p.Lys54Arg) rs186448909
NM_002032.3(FTH1):c.387+12A>G rs201120647
NM_004183.3(BEST1):c.422G>A (p.Arg141His) rs121918284
NM_004183.4(BEST1):c.*133T>C rs1801621
NM_004183.4(BEST1):c.*24C>T rs142482048
NM_004183.4(BEST1):c.-66G>T rs886048425
NM_004183.4(BEST1):c.1023C>T (p.Pro341=) rs1801390
NM_004183.4(BEST1):c.1064G>A (p.Arg355His) rs368356148
NM_004183.4(BEST1):c.1070C>T (p.Ala357Val) rs17854138
NM_004183.4(BEST1):c.109T>C (p.Leu37=) rs1800007
NM_004183.4(BEST1):c.1143C>T (p.Asp381=) rs112199774
NM_004183.4(BEST1):c.1157A>C (p.His386Pro) rs886048427
NM_004183.4(BEST1):c.1330G>A (p.Ala444Thr) rs765604572
NM_004183.4(BEST1):c.139C>T (p.Arg47Cys) rs765333778
NM_004183.4(BEST1):c.1410G>A (p.Thr470=) rs149698
NM_004183.4(BEST1):c.1457C>T (p.Pro486Leu) rs886048428
NM_004183.4(BEST1):c.1474G>A (p.Val492Ile) rs111326315
NM_004183.4(BEST1):c.1519T>C (p.Ser507Pro) rs141071579
NM_004183.4(BEST1):c.152+6G>T rs764420497
NM_004183.4(BEST1):c.1557C>T (p.Ser519=) rs1800008
NM_004183.4(BEST1):c.1583A>G (p.Glu528Gly) rs757181644
NM_004183.4(BEST1):c.1608T>C (p.Thr536=) rs1800009
NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys) rs147192139
NM_004183.4(BEST1):c.1699C>T (p.Leu567Phe) rs148060787
NM_004183.4(BEST1):c.201G>C (p.Leu67=) rs1801393
NM_004183.4(BEST1):c.213C>T (p.Ser71=) rs57132800
NM_004183.4(BEST1):c.219C>A (p.Ile73=) rs1109748
NM_004183.4(BEST1):c.351G>A (p.Lys117=) rs886048426
NM_004183.4(BEST1):c.495G>A (p.Pro165=) rs182941675
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr) rs199529046
NM_004183.4(BEST1):c.618G>A (p.Leu206=) rs62641693
NM_004183.4(BEST1):c.619C>A (p.Leu207Ile) rs74653691
NM_004183.4(BEST1):c.637-6C>T rs62639356
NM_004183.4(BEST1):c.696C>A (p.Ile232=) rs1805140
NM_004183.4(BEST1):c.699A>G (p.Pro233=) rs760816505
NM_004183.4(BEST1):c.813C>T (p.Leu271=) rs370397270
NM_004183.4(BEST1):c.954C>G (p.Ser318=) rs144231113

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