List of variants reported as pathogenic by Pediatrics, MediClubGeorgia

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000303.3(PMM2):c.349G>T (p.Gly117Cys)	rs104894530
NM_000462.3(UBE3A):c.2365delG	rs2074511604
NM_001029896.2(WDR45):c.183C>A (p.Asn61Lys)	rs2065045729
NM_001040142.2(SCN2A):c.5644C>G (p.Arg1882Gly)	rs796053166
NM_001127222.2(CACNA1A):c.1843A>C (p.Ser615Arg)	rs2057947681
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)	rs794727411
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])	rs587784440
NM_001165963.4(SCN1A):c.3944_3945del (p.Leu1315fs)	rs1692166604
NM_001165963.4(SCN1A):c.602+1G>A
NM_001184880.2(PCDH19):c.463G>C (p.Asp155His)	rs796052800
NM_004408.4(DNM1):c.709C>T (p.Arg237Trp)	rs760270633
NM_015178.3(RHOBTB2):c.1466G>A (p.Arg489Gln)	rs1554504684

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