List of variants reported as pathogenic for autosomal anomaly by Mendelics

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Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_001387430.1(SH2B1):c.1846T>C (p.Ser616Pro)	rs142515048	0.00039
NM_016111.4(TELO2):c.2296G>A (p.Val766Met)	rs371675497	0.00010
NM_016111.4(TELO2):c.1825C>T (p.Arg609Cys)	rs766665093	0.00001
NM_016111.4(TELO2):c.1842+5G>A	rs758551997	0.00001
NM_001002295.2(GATA3):c.381_388del (p.Gly128fs)	rs2131488863
NM_001002295.2(GATA3):c.708del (p.Ser237fs)	rs771019738
NM_001002295.2(GATA3):c.925-3_925-2del	rs763236375
NM_001172509.2(SATB2):c.1196G>A (p.Arg399His)	rs1057518190
NM_001172509.2(SATB2):c.474-2A>G	rs1574566973
NM_002049.4(GATA1):c.231_232dup (p.Tyr78fs)	rs2147306077
NM_002397.5(MEF2C):c.1A>G (p.Met1Val)	rs1432291994
NM_002397.5(MEF2C):c.44G>C (p.Arg15Pro)	rs1202957297
NM_002397.5(MEF2C):c.658C>T (p.Arg220Ter)	rs1761818173
NM_006940.6(SOX5):c.1489-2A>G	rs2136075793
NM_022455.5(NSD1):c.1727dup (p.Asn576fs)	rs1299932363
NM_022455.5(NSD1):c.1743del (p.Glu581fs)	rs794729232
NM_022455.5(NSD1):c.2993T>A (p.Leu998Ter)	rs2149846817
NM_022455.5(NSD1):c.3922-1G>C	rs1581407682
NM_022455.5(NSD1):c.4108C>T (p.Gln1370Ter)	rs1581408152
NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr)	rs587784127
NM_022455.5(NSD1):c.5303+1G>A	rs587784141
NM_022455.5(NSD1):c.5812A>T (p.Lys1938Ter)	rs1581527842
NM_022455.5(NSD1):c.6088_6089del (p.Gln2030fs)	rs1581535570
NM_022455.5(NSD1):c.6366del (p.Phe2122fs)	rs587784192
NM_022455.5(NSD1):c.6553C>T (p.Gln2185Ter)	rs1581563059
NM_022455.5(NSD1):c.6557A>G (p.His2186Arg)	rs587784208
NM_078480.3(PUF60):c.208-1G>A	rs1229324113
NM_078480.3(PUF60):c.219del (p.Lys72_Tyr73insTer)	rs1586590135
NM_078480.3(PUF60):c.271C>T (p.Gln91Ter)	rs1464053660
NM_078480.3(PUF60):c.382_383del (p.Met128fs)	rs2130258214

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