ClinVar Miner

List of variants reported as likely pathogenic for complex neurodevelopmental disorder by Mendelics

Included ClinVar conditions (297):
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Minimum conflict level:
ClinVar version:
Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_004341.5(CAD):c.5429G>A (p.Arg1810Gln) rs139332887 0.00028
NM_153682.3(PIGP):c.2T>C (p.Met1Thr) rs768633670 0.00004
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900 0.00002
NM_000810.4(GABRA5):c.902C>G (p.Thr301Arg) rs1595438268
NM_001032221.6(STXBP1):c.236C>T (p.Pro79Leu) rs1588302912
NM_001032221.6(STXBP1):c.303_305del (p.Ala102del) rs1588306876
NM_001032221.6(STXBP1):c.862T>C (p.Trp288Arg) rs1588324025
NM_001037333.3(CYFIP2):c.259C>A (p.Arg87Ser) rs1131692231
NM_001110792.2(MECP2):c.487G>T (p.Asp163Tyr) rs1557137042
NM_001110792.2(MECP2):c.502G>T (p.Asp168Tyr) rs1603309620
NM_001110792.2(MECP2):c.553C>A (p.Pro185Thr) rs61748427
NM_001127222.2(CACNA1A):c.1059C>G (p.Asn353Lys) rs1568546593
NM_001127222.2(CACNA1A):c.4045G>A (p.Val1349Met) rs1600198481
NM_001127222.2(CACNA1A):c.4714A>G (p.Met1572Val) rs2056510928
NM_001127222.2(CACNA1A):c.644T>C (p.Val215Ala) rs1599292631
NM_001127222.2(CACNA1A):c.653C>G (p.Ser218Trp) rs121908225
NM_001165963.4(SCN1A):c.1077T>A (p.Asn359Lys) rs1574240716
NM_001165963.4(SCN1A):c.1204T>A (p.Phe402Ile) rs796053094
NM_001165963.4(SCN1A):c.1810dup (p.Arg604fs) rs1574217232
NM_001165963.4(SCN1A):c.2350_2351del (p.Phe784fs) rs1553543215
NM_001165963.4(SCN1A):c.2958_2959del (p.Phe987fs) rs794729207
NM_001165963.4(SCN1A):c.3429+1G>T rs1574166948
NM_001165963.4(SCN1A):c.354G>T (p.Arg118Ser) rs121917959
NM_001165963.4(SCN1A):c.3705+5G>A rs1060502189
NM_001165963.4(SCN1A):c.384-12A>C rs1574291210
NM_001165963.4(SCN1A):c.4146del (p.Asp1383fs) rs1574005699
NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn) rs1573991676
NM_001165963.4(SCN1A):c.4444A>C (p.Ile1482Leu) rs794729200
NM_001165963.4(SCN1A):c.4862T>C (p.Leu1621Pro) rs1573953706
NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser) rs121918778
NM_001165963.4(SCN1A):c.5261G>A (p.Gly1754Glu) rs796053036
NM_001165963.4(SCN1A):c.683C>T (p.Ser228Leu) rs1574271644
NM_001165963.4(SCN1A):c.830G>A (p.Cys277Tyr) rs1574264920
NM_001165963.4(SCN1A):c.942G>T (p.Trp314Cys) rs1553549471
NM_001184880.2(PCDH19):c.1442A>G (p.Asp481Gly) rs1602636096
NM_001184880.2(PCDH19):c.1787A>G (p.Asp596Gly) rs2147537831
NM_001184880.2(PCDH19):c.1925T>G (p.Val642Gly) rs1602635282
NM_001184880.2(PCDH19):c.1938C>A (p.Asp646Glu) rs1602635261
NM_001184880.2(PCDH19):c.260_292del (p.Ile87_Pro97del) rs1602638228
NM_001184880.2(PCDH19):c.959A>T (p.Asp320Val) rs1602636925
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu) rs1060503519
NM_001271.4(CHD2):c.2675A>G (p.Gln892Arg) rs1596427970
NM_001278512.2(AP3B2):c.392_394del (p.Leu131del) rs1596183293
NM_001323289.2(CDKL5):c.213C>G (p.Asn71Lys) rs1602269367
NM_001323289.2(CDKL5):c.530A>G (p.Tyr177Cys) rs2147145573
NM_001323289.2(CDKL5):c.602T>C (p.Leu201Pro) rs587783087
NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu) rs1602232972
NM_001323289.2(CDKL5):c.825+1dup rs1602280455
NM_001330260.2(SCN8A):c.1228G>T (p.Val410Leu) rs879255699
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.2641G>C (p.Val881Leu) rs1592149771
NM_001330260.2(SCN8A):c.4426G>A (p.Gly1476Ser) rs1064793263
NM_001330260.2(SCN8A):c.4492A>G (p.Lys1498Glu) rs1555228931
NM_001330260.2(SCN8A):c.4594A>T (p.Ile1532Phe) rs1555229496
NM_001330260.2(SCN8A):c.4883T>C (p.Leu1628Ser) rs1555230928
NM_001330260.2(SCN8A):c.5279T>C (p.Met1760Thr) rs1555231012
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001367561.1(DOCK7):c.1333C>T (p.Arg445Ter) rs758111714
NM_001367561.1(DOCK7):c.5463dup (p.Gln1822fs) rs1571266478
NM_002641.4(PIGA):c.1386_1393dup (p.Thr465fs) rs1602206514
NM_004974.4(KCNA2):c.1118C>T (p.Thr373Ile) rs1553181282
NM_004975.4(KCNB1):c.1220T>C (p.Leu407Pro) rs2146813611
NM_004975.4(KCNB1):c.1303G>C (p.Ala435Pro) rs2146813509
NM_004975.4(KCNB1):c.1747C>T (p.Arg583Ter) rs781663444
NM_004975.4(KCNB1):c.595A>T (p.Ile199Phe) rs1601072041
NM_004975.4(KCNB1):c.814C>T (p.Pro272Ser) rs1601071747
NM_005249.5(FOXG1):c.688C>T (p.Arg230Cys) rs1594383704
NM_006922.4(SCN3A):c.2947TTG[1] (p.Leu984del) rs1574159505
NM_015047.3(EMC1):c.1751C>G (p.Pro584Arg) rs1553252938
NM_015047.3(EMC1):c.1754C>A (p.Pro585Gln) rs1572001567
NM_016373.4(WWOX):c.136C>T (p.His46Tyr) rs1597207871
NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser) rs1588344733
NM_020822.3(KCNT1):c.3338C>A (p.Ala1113Asp) rs1193627908
NM_020988.3(GNAO1):c.143C>A (p.Thr48Asn) rs1555499800
NM_020988.3(GNAO1):c.451G>A (p.Asp151Asn) rs1596867702
NM_020988.3(GNAO1):c.614A>C (p.Gln205Pro) rs2143664881
NM_020988.3(GNAO1):c.737A>T (p.Glu246Val) rs1114167431
NM_031844.3(HNRNPU):c.415C>T (p.Gln139Ter) rs1573337948
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys) rs104894746
NM_139058.3(ARX):c.1593_1620del (p.Ser531fs) rs1601945599
NM_177550.5(SLC13A5):c.103-1G>A rs1597677742
NM_177550.5(SLC13A5):c.1276-1G>A rs1597657030
NM_198503.5(KCNT2):c.914G>C (p.Cys305Ser) rs2148537524

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