ClinVar Miner

List of variants reported by Division of Genomics, Kyushu university

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.1805T>G (p.Leu602Arg)
NM_001385012.1(NBEA):c.8659C>T (p.Arg2887Trp)	rs2085418293
NM_001447.3(FAT2):c.8976G>C (p.Gln2992His)	rs1756035473
NM_016320.5(NUP98):c.5014T>C (p.Ser1672Pro)	rs1400980586
NM_021629.4(GNB4):c.659A>G (p.Gln220Arg)	rs199615251

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