ClinVar Miner

List of variants studied for autosomal recessive disease by UCLA Clinical Genomics Center, UCLA

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln) rs537043237 0.00002
NM_018249.6(CDK5RAP2):c.4441C>T (p.Arg1481Ter) rs587783390 0.00001
NM_018389.5(SLC35C1):c.872C>T (p.Thr291Ile) rs751828447 0.00001
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys) rs397509425 0.00001
NM_000070.2(CAPN3):c.[1319G>A];[319G>T]
NM_000243.2(MEFV):c.[2084A>G];[2230G>T]
NM_000271.4(NPC1):c.[2213C>A];[3234_3237dupATTT]
NM_002180.2(IGHMBP2):c.[660A>C];[92G>A]
NM_002693.2(POLG):c.[2554C>T];[32G>A]
NM_003494.3(DYSF):c.[2643+1G>A];[4577A>C]
NM_003494.3(DYSF):c.[3516_3517delTT];[5078G>A]
NM_003673.4(TCAP):c.25_31dup (p.Ser11Ter) rs863224933
NM_014363.5(SACS):c.[11624G>A];[7276C>T]
NM_015046.5(SETX):c.[6106G>A];[7149_7151delTTGinsAT]
NM_017651.4(AHI1):c.[2561G>T];[3368C>T]
NM_018972.2(GDAP1):c.[347T>C];[62delA]
NM_032957.4(RTEL1):c.[1346T>C];[3028C>T]
NM_033071.3(SYNE1):c.[20050C>T];[7938G>A]
NM_033071.3(SYNE1):c.[4482+1G>T];[9646A>T]
NM_133378.4(TTN):c.[98049dupA];[99250C>T]
NM_182961.4(SYNE1):c.3396-10_3396delinsC rs863224929
NM_194248.2(OTOF):c.[3928_3930dupAAG];[5098G>C]
NM_206933.4(USH2A):c.9827C>G (p.Ser3276Ter) rs863224941
NM_213599.2(ANO5):c.[155A>G];[191dupA]

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