ClinVar Miner

List of variants reported as likely benign for Lethal multiple pterygium syndrome by Illumina Laboratory Services, Illumina

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser) rs2229194 0.00305
NM_005199.5(CHRNG):c.195+14C>T rs200640510 0.00299
NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln) rs148468628 0.00262
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=) rs150638770 0.00220
NM_000079.4(CHRNA1):c.-37A>G rs182459320 0.00217
NM_000751.3(CHRND):c.1530C>T (p.Asn510=) rs114463490 0.00175
NM_000079.4(CHRNA1):c.*411G>A rs560280191 0.00057
NM_000751.3(CHRND):c.*676G>A rs183259359 0.00032
NM_000751.3(CHRND):c.*908A>G rs547787086 0.00012
NM_000079.4(CHRNA1):c.723C>T (p.Pro241=) rs189442556 0.00008
NM_000079.4(CHRNA1):c.*422G>T rs184095877

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