ClinVar Miner

List of variants studied for Autosomal recessive multiple pterygium syndrome; Lethal multiple pterygium syndrome

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe) rs145433186 0.00160
NM_005199.5(CHRNG):c.753_754del (p.Val253fs) rs767503038 0.00026
NM_005199.5(CHRNG):c.1421G>A (p.Arg474His) rs16829216 0.00012
NM_005199.5(CHRNG):c.401_402del (p.Pro134fs) rs747067203 0.00011
NM_005199.5(CHRNG):c.1012T>C (p.Ser338Pro) rs776733115 0.00008
NM_005199.5(CHRNG):c.1145C>T (p.Ser382Leu) rs774121021 0.00006
NM_005199.5(CHRNG):c.136C>T (p.Arg46Ter) rs121912672 0.00001
NM_005199.5(CHRNG):c.274C>T (p.Arg92Ter) rs1559302834 0.00001
NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter) rs764266722

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