List of variants reported as pathogenic for Pontoneocerebellar hypoplasia

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)	rs113994152	0.00092
NM_001368809.2(AMPD2):c.1345C>T (p.Arg449Ter)	rs760433806	0.00004
NM_207346.3(TSEN54):c.371G>T (p.Gly124Val)	rs774157225	0.00002
NM_001128159.3(VPS53):c.1556+5G>A	rs587777466	0.00001
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr)	rs267607035	0.00001
NM_020320.5(RARS2):c.848T>A (p.Leu283Gln)	rs1258569046	0.00001
NM_001199198.3(TBC1D23):c.1475_1476del (p.Val492fs)
NM_001199198.3(TBC1D23):c.1526delinsAA (p.Ile509fs)	rs1553730885
NM_001199198.3(TBC1D23):c.1687+2T>G
NM_003384.3(VRK1):c.345del (p.Ser116fs)
NM_004897.5(MINPP1):c.1027_1028del (p.Ile343fs)	rs2131815084
NM_016042.4(EXOSC3):c.155del (p.Pro52fs)	rs886041316
NM_020320.5(RARS2):c.3G>A (p.Met1Ile)	rs2128238503
NM_020320.5(RARS2):c.436_437delinsA (p.Arg146fs)
NM_025265.4(TSEN2):c.958A>T (p.Lys320Ter)

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