ClinVar Miner

List of variants reported as benign for MRCS syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_001363592.1(BEST1):c.-221T>C rs972353
NM_001363592.1(BEST1):c.-329C>T rs972354
NM_002032.3(FTH1):c.*222C>T rs17156609
NM_002032.3(FTH1):c.*319G>A rs75281081
NM_004183.4(BEST1):c.1023C>T (p.Pro341=) rs1801390
NM_004183.4(BEST1):c.109T>C (p.Leu37=) rs1800007
NM_004183.4(BEST1):c.1410G>A (p.Thr470=) rs149698
NM_004183.4(BEST1):c.1557C>T (p.Ser519=) rs1800008
NM_004183.4(BEST1):c.1608T>C (p.Thr536=) rs1800009
NM_004183.4(BEST1):c.201G>C (p.Leu67=) rs1801393
NM_004183.4(BEST1):c.219C>A (p.Ile73=) rs1109748
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr) rs199529046
NM_004183.4(BEST1):c.696C>A (p.Ile232=) rs1805140

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