ClinVar Miner

List of variants in gene combination HSALR1, PIEZO1 reported by GeneDx

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Total variants: 114
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HGVS dbSNP gnomAD frequency
NM_001142864.4(PIEZO1):c.1196-48A>G rs4782410 0.99688
NM_001142864.4(PIEZO1):c.749T>C (p.Val250Ala) rs7184427 0.85241
NM_001142864.4(PIEZO1):c.2665-98A>G rs3214053 0.68916
NM_001142864.4(PIEZO1):c.2665-198C>T rs6500492 0.66522
NM_001142864.4(PIEZO1):c.1219A>G (p.Arg407Gly) rs13333358 0.38670
NM_001142864.4(PIEZO1):c.466-87C>T rs12443723 0.30343
NM_001142864.4(PIEZO1):c.466-92C>T rs7185664 0.29137
NM_001142864.4(PIEZO1):c.1557+62C>T rs2879906 0.22701
NM_001142864.4(PIEZO1):c.2329+19G>A rs2306050 0.22595
NM_001142864.4(PIEZO1):c.2181-148C>A rs79319346 0.22245
NM_001142864.4(PIEZO1):c.1557+308C>T rs4547319 0.22050
NM_001142864.4(PIEZO1):c.2664+269C>G rs2340987 0.20786
NM_001142864.4(PIEZO1):c.635-8C>T rs11076706 0.20777
NM_001142864.4(PIEZO1):c.466-39C>T rs7185630 0.20717
NM_001142864.4(PIEZO1):c.2665-148C>T rs2340984 0.20641
NM_001142864.4(PIEZO1):c.1557+83G>A rs76354120 0.20117
NM_001142864.4(PIEZO1):c.1997+32C>T rs3214056 0.19745
NM_001142864.4(PIEZO1):c.1297-16C>T rs114153706 0.16361
NM_001142864.4(PIEZO1):c.2031G>A (p.Val677=) rs34908386 0.14418
NM_001142864.4(PIEZO1):c.1557+45C>A rs36100417 0.14166
NM_001142864.4(PIEZO1):c.3196+188T>C rs55924855 0.12961
NM_001142864.4(PIEZO1):c.2130C>T (p.Asp710=) rs35353288 0.11051
NM_001142864.4(PIEZO1):c.2159G>A (p.Arg720His) rs35265318 0.10634
NM_001142864.4(PIEZO1):c.2180+94C>G rs9922996 0.10469
NM_001142864.4(PIEZO1):c.2180+71G>A rs9930994 0.10468
NM_001142864.4(PIEZO1):c.1540C>T (p.Leu514=) rs78905828 0.10252
NM_001142864.4(PIEZO1):c.2181-15C>T rs77376965 0.09906
NM_001142864.4(PIEZO1):c.1196-353C>G rs4782409 0.09120
NM_001142864.4(PIEZO1):c.2330-23C>A rs11649478 0.08320
NM_001142864.4(PIEZO1):c.1558-116C>T rs4782413 0.07307
NM_001142864.4(PIEZO1):c.2991+25C>T rs57826109 0.06789
NM_001142864.4(PIEZO1):c.2181-139A>G rs59537814 0.06622
NM_001142864.4(PIEZO1):c.2665-193C>T rs2340986 0.06530
NM_001142864.4(PIEZO1):c.2790+10A>G rs73266607 0.05712
NM_001142864.4(PIEZO1):c.2991+12A>G rs112680298 0.05710
NM_001142864.4(PIEZO1):c.2361G>C (p.Arg787=) rs9928479 0.05227
NM_001142864.4(PIEZO1):c.2665-162C>G rs2340985 0.05009
NM_001142864.4(PIEZO1):c.465+156G>A rs73266644 0.04441
NM_001142864.4(PIEZO1):c.466-112G>T rs57868176 0.03898
NM_001142864.4(PIEZO1):c.1013C>A (p.Ser338Tyr) rs112081600 0.03693
NM_001142864.4(PIEZO1):c.2991+118G>A rs73264802 0.03691
NM_001142864.4(PIEZO1):c.1674C>T (p.Pro558=) rs115016757 0.03663
NM_001142864.4(PIEZO1):c.2664+202A>C rs61095291 0.03657
NM_001142864.4(PIEZO1):c.3196+132C>G rs79569596 0.03632
NM_001142864.4(PIEZO1):c.2991+185A>G rs77206797 0.02660
NM_001142864.4(PIEZO1):c.588G>T (p.Leu196=) rs142099589 0.02381
NM_001142864.4(PIEZO1):c.1196-17G>A rs79917859 0.02365
NM_001142864.4(PIEZO1):c.1365G>A (p.Thr455=) rs61742623 0.02147
NM_001142864.4(PIEZO1):c.848+59G>A rs72813506 0.02145
NM_001142864.4(PIEZO1):c.2991+141C>T rs144825195 0.01803
NM_001142864.4(PIEZO1):c.3129C>T (p.Leu1043=) rs61742732 0.01802
NM_001142864.4(PIEZO1):c.555C>T (p.Ala185=) rs115481622 0.01551
NM_001142864.4(PIEZO1):c.2991+108G>A rs148564095 0.01331
NM_001142864.4(PIEZO1):c.1297-14T>C rs11860864 0.01282
NM_001142864.4(PIEZO1):c.1527C>A (p.Thr509=) rs76834910 0.00776
NM_001142864.4(PIEZO1):c.2139C>T (p.His713=) rs36067616 0.00564
NM_001142864.4(PIEZO1):c.2466C>T (p.Thr822=) rs138064042 0.00549
NM_001142864.4(PIEZO1):c.2689C>T (p.Leu897=) rs150958604 0.00354
NM_001142864.4(PIEZO1):c.2991+143G>A rs144953128 0.00323
NM_001142864.4(PIEZO1):c.985C>G (p.Leu329Val) rs114507258 0.00179
NM_001142864.4(PIEZO1):c.1688C>T (p.Thr563Met) rs192347853 0.00067
NM_001142864.4(PIEZO1):c.1591C>T (p.Arg531Cys) rs146505418 0.00065
NM_001142864.4(PIEZO1):c.3181C>G (p.Pro1061Ala) rs748155949 0.00031
NM_001142864.4(PIEZO1):c.752C>T (p.Ala251Val) rs539005229 0.00027
NM_001142864.4(PIEZO1):c.1001C>T (p.Ala334Val) rs574402639 0.00021
NM_001142864.4(PIEZO1):c.2744A>G (p.Asn915Ser) rs543115615 0.00016
NM_001142864.4(PIEZO1):c.2546G>A (p.Arg849His) rs774090082 0.00015
NM_001142864.4(PIEZO1):c.950G>C (p.Gly317Ala) rs868678918 0.00014
NM_001142864.4(PIEZO1):c.1970G>A (p.Arg657His) rs770023621 0.00012
NM_001142864.4(PIEZO1):c.1994A>G (p.Glu665Gly) rs547592988 0.00012
NM_001142864.4(PIEZO1):c.1178C>T (p.Ser393Phe) rs762815292 0.00009
NM_001142864.4(PIEZO1):c.2896G>A (p.Val966Met) rs955881366 0.00004
NM_001142864.4(PIEZO1):c.3106C>T (p.Arg1036Cys) rs775153962 0.00004
NM_001142864.4(PIEZO1):c.1264C>T (p.Gln422Ter) rs934897228 0.00003
NM_001142864.4(PIEZO1):c.2209C>A (p.Leu737Met) rs985377446 0.00003
NM_001142864.4(PIEZO1):c.2492C>T (p.Ser831Leu) rs1471934686 0.00002
NM_001142864.4(PIEZO1):c.2420G>A (p.Arg807Gln) rs1064797061 0.00001
NM_001142864.4(PIEZO1):c.2561C>T (p.Ala854Val) rs1189050065 0.00001
NM_001142864.4(PIEZO1):c.1297-59_1298del
NM_001142864.4(PIEZO1):c.1381C>T (p.Gln461Ter) rs776709730
NM_001142864.4(PIEZO1):c.1499G>C (p.Ser500Thr) rs756168052
NM_001142864.4(PIEZO1):c.1557+16C>G rs734918
NM_001142864.4(PIEZO1):c.1678C>T (p.Arg560Trp)
NM_001142864.4(PIEZO1):c.1845C>G (p.Phe615Leu) rs759222494
NM_001142864.4(PIEZO1):c.1969C>T (p.Arg657Cys)
NM_001142864.4(PIEZO1):c.1997+56G>A rs79613370
NM_001142864.4(PIEZO1):c.2132T>A (p.Met711Lys) rs534048899
NM_001142864.4(PIEZO1):c.2181-89_2181-84del rs66935855
NM_001142864.4(PIEZO1):c.2233CAG[4] (p.Gln749del) rs144777557
NM_001142864.4(PIEZO1):c.2245_2250del (p.Gln749_Glu750del) rs144269709
NM_001142864.4(PIEZO1):c.2247GGA[7] (p.Glu756del) rs59446030
NM_001142864.4(PIEZO1):c.2445C>G (p.Phe815Leu) rs2507905429
NM_001142864.4(PIEZO1):c.2515G>A (p.Val839Met) rs2507904469
NM_001142864.4(PIEZO1):c.2545C>T (p.Arg849Cys) rs776672249
NM_001142864.4(PIEZO1):c.2664+12C>G rs58273686
NM_001142864.4(PIEZO1):c.2699A>C (p.Glu900Ala) rs2507900726
NM_001142864.4(PIEZO1):c.2776C>G (p.Leu926Val) rs1319685835
NM_001142864.4(PIEZO1):c.2791-1G>A
NM_001142864.4(PIEZO1):c.2908G>C (p.Gly970Arg) rs964534644
NM_001142864.4(PIEZO1):c.2966TCT[2] (p.Phe991del)
NM_001142864.4(PIEZO1):c.2992-200C>G rs73264800
NM_001142864.4(PIEZO1):c.2992-46_2992-45insCAT rs754261447
NM_001142864.4(PIEZO1):c.2992-46_2992-45insCT rs754261447
NM_001142864.4(PIEZO1):c.3000C>G (p.Phe1000Leu) rs568280615
NM_001142864.4(PIEZO1):c.3092G>A (p.Arg1031His)
NM_001142864.4(PIEZO1):c.465+101C>T rs750738
NM_001142864.4(PIEZO1):c.465+243C>T rs2242165
NM_001142864.4(PIEZO1):c.465+278T>C rs750739
NM_001142864.4(PIEZO1):c.466-138G>A rs57044148
NM_001142864.4(PIEZO1):c.634+51del rs34600315
NM_001142864.4(PIEZO1):c.799C>T (p.Gln267Ter)
NM_001142864.4(PIEZO1):c.848+17C>T rs8060643
NM_001142864.4(PIEZO1):c.923T>C (p.Leu308Pro) rs1287179392
NM_001142864.4(PIEZO1):c.946C>T (p.Pro316Ser) rs2142833068

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