ClinVar Miner

List of variants reported as likely pathogenic for complex neurodevelopmental disorder by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg) rs35201073 0.00128
NC_000023.11:g.154031853_154031854ins77278664_77280319
NM_001032221.6(STXBP1):c.37+2dup rs1838431452
NM_001040142.2(SCN2A):c.2765G>A (p.Arg922His) rs1057518048
NM_001040142.2(SCN2A):c.4579_4602del (p.Phe1527_Asp1534del) rs2105398203
NM_001122955.4(BSCL2):c.446C>G (p.Pro149Arg)
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn) rs1064795531
NM_001165963.4(SCN1A):c.4040T>A (p.Ile1347Asn) rs1553525325
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys) rs267606933
NM_001271.4(CHD2):c.1244G>T (p.Cys415Phe)
NM_001271.4(CHD2):c.2764GAG[2] (p.Glu924del) rs2053946125
NM_001323289.2(CDKL5):c.470C>T (p.Ala157Val) rs863225066
NM_001330260.2(SCN8A):c.4426G>A (p.Gly1476Ser) rs1064793263
NM_001330260.2(SCN8A):c.971G>A (p.Cys324Tyr) rs2138739035
NM_001371246.1(SCN2A):c.634A>G (p.Asn212Asp) rs1553567473
NM_005249.5(FOXG1):c.543G>T (p.Lys181Asn) rs767961672
NM_020988.3(GNAO1):c.1021_1023del (p.Asp341del)
NM_024818.6(UBA5):c.280A>G (p.Arg94Gly)
NM_172107.4(KCNQ2):c.811G>A (p.Gly271Ser) rs1064797284
NM_198503.5(KCNT2):c.433del (p.Ile145fs)
NM_198904.4(GABRG2):c.1061G>T (p.Gly354Val) rs1060501888

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