ClinVar Miner

List of variants studied for Polycystic kidney disease 2 by MVZ Medizinische Genetik Mainz

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.1010T>A (p.Leu337Ter) rs1332881642
NM_000297.4(PKD2):c.1027G>T (p.Glu343Ter) rs2110107239
NM_000297.4(PKD2):c.1096T>A (p.Trp366Arg) rs2475915235
NM_000297.4(PKD2):c.1162_1180del (p.Gly388fs) rs2475915681
NM_000297.4(PKD2):c.1169G>C (p.Gly390Ala) rs2475915717
NM_000297.4(PKD2):c.1187C>G (p.Ser396Ter)
NM_000297.4(PKD2):c.1217_1223del (p.Val406fs) rs2475916022
NM_000297.4(PKD2):c.1293del (p.Asn432fs)
NM_000297.4(PKD2):c.1295A>C (p.Asn432Thr)
NM_000297.4(PKD2):c.129_147del (p.Gly45fs)
NM_000297.4(PKD2):c.1395T>A (p.Tyr465Ter) rs1199709583
NM_000297.4(PKD2):c.1432A>T (p.Ile478Phe) rs2475925373
NM_000297.4(PKD2):c.1704del (p.Phe568fs) rs1720128947
NM_000297.4(PKD2):c.1711del (p.Ile571fs) rs2475942083
NM_000297.4(PKD2):c.1934del (p.Asn645fs) rs2475959368
NM_000297.4(PKD2):c.2051dup (p.Tyr684Ter) rs1578144873
NM_000297.4(PKD2):c.2062A>T (p.Lys688Ter) rs2110134005
NM_000297.4(PKD2):c.210_211del (p.Ala71fs) rs2476357331
NM_000297.4(PKD2):c.2241-1G>A
NM_000297.4(PKD2):c.2393_2396del (p.Arg798fs) rs2475986221
NM_000297.4(PKD2):c.2457_2481del (p.Asp819fs) rs2475986648
NM_000297.4(PKD2):c.2532dup (p.Arg845fs) rs2476008728
NM_000297.4(PKD2):c.2640G>A (p.Val880=)
NM_000297.4(PKD2):c.2814del (p.Gln938fs) rs2476011907
NM_000297.4(PKD2):c.321_322insCG (p.Gly108fs)
NM_000297.4(PKD2):c.325G>T (p.Gly109Ter) rs2476357829
NM_000297.4(PKD2):c.339_358dup (p.Pro120delinsArgTrpThrTer) rs2476357872
NM_000297.4(PKD2):c.354del (p.Trp118fs) rs2476357922
NM_000297.4(PKD2):c.423_430dup (p.Tyr144fs) rs2476358222
NM_000297.4(PKD2):c.548del (p.Gln183fs) rs2476358800
NM_000297.4(PKD2):c.592C>T (p.Arg198Ter)
NM_000297.4(PKD2):c.595G>C (p.Gly199Arg) rs1726264964
NM_000297.4(PKD2):c.695_696del (p.Ile232fs) rs2475869464
NM_000297.4(PKD2):c.709+1G>C rs398123308
NM_000297.4(PKD2):c.778_779dup (p.Val262fs)
NM_000297.4(PKD2):c.843+3A>G rs2475896264
NM_000297.4(PKD2):c.983_984del (p.Asn328fs) rs2475901452

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